Joint Open Genome and Omics Platform (JoGo)

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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
RIPPLY3_chr21_37001702_37024662	37018136	G G	GTCTCTCA others(6): Show GTCTCTCAACAACA	frameshift_variant frameshift_variant	HIGH	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0019 a0003c0005t0019	a0003c0005t0019g0115 a0003c0005t0019g0115	1	432	0.0023	13	c.502 others(20): Show c.502_503insTCTCTCAACAACA	p.Asp others(5): Show p.Asp168fs	RIPPLY3	ENSG00000183145.9	transcript	ENST00000329553.3	protein_coding	4/4	574/2099	503/573	168/190			chr21	TogoVar
RIPPLY3_chr21_37001702_37024662	37018151	G G	GAAAAGAG others(3): Show GAAAAGAGAGA	frameshift_variant frameshift_variant	HIGH	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0019 a0003c0005t0019	a0003c0005t0019g0115 a0003c0005t0019g0115	1	432	0.0023	10	c.517 others(17): Show c.517_518insAAAAGAGAGA	p.Gly others(5): Show p.Gly173fs	RIPPLY3	ENSG00000183145.9	transcript	ENST00000329553.3	protein_coding	4/4	589/2099	518/573	173/190			chr21	TogoVar
RIPPLY3_chr21_37001702_37024662	37018205	T T	C C	stop_lost stop_lost	HIGH	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0019 a0003c0005t0019	a0003c0005t0019g0115 a0003c0005t0019g0115	1	432	0.0023	0	c.571 others(3): Show c.571T>C	p.Ter others(11): Show p.Ter191Argext*?	RIPPLY3	ENSG00000183145.9	transcript	ENST00000329553.3	protein_coding	4/4	642/2099	571/573	191/190			chr21	TogoVar
RIPPLY3_chr21_37001702_37024662	37018207	A A	G G	stop_lost stop_lost	HIGH	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0019 a0003c0005t0019	a0003c0005t0019g0115 a0003c0005t0019g0115	1	432	0.0023	0	c.573 others(3): Show c.573A>G	p.Ter others(11): Show p.Ter191Trpext*?	RIPPLY3	ENSG00000183145.9	transcript	ENST00000329553.3	protein_coding	4/4	644/2099	573/573	191/190			chr21	TogoVar
RLN2_chr9_5294864_5309716	5302856	AAGATATA others(6853): Show AAGATATATACATATACCTATCCAAATGTTAACATTTCTTTCCACTTACT TGTTTAATATAATTTCATTTTCTCATAAAATTCACATATACTTTTCAAAG TCCTTAATATCTACGAGTGCTTCTCATTTTTCACGCTGCATTAATGTACA TTTGTCTTTAATATGAGCATTACTACTTTTATAGTCAGAAAATGTGGAAT AATAAAGCAAATGCAATGCAATCCGGTCTTCTCTACTTTTTATCACTAAA TTCCTAGACGTTGTGGTATTTTTGTACTAATGTTATACAAAAGTCATGTA AAAACTGCCATTAAATAAATCAAACTCTAACAATGTAGAAAAGTAAATAA CTTTAGAAGCATACTTTAAATCTCATAAAAGAGAAGTAAATGTATTTCTG TTAGAGTCATTTATATATAGTATATGCATATAGCCTATAAAATTTAGTTG CGGTTTATCATAAATTACATGTCATACTAATACAAAACACTTAGTATTTG CAACTGCGGTTACTTTCTCTGAATTTAATATGACCCGTTACACTTCTTAG ACTAGTATATACCTCCATGAGTTTCCACTGCTACTTTATAAATACTAAAA TATTTTTAAAAGCCATTTCAGATTGAGCTGTACTCAACTCTAAGAGCTTG CCTTTAAAGCAAACCCACTGCAGCTTCCAAATGCTTGAAAGCATCAGTAG GGTCTTCAGCTATGATGGTCTGAACGGCCTGCTTTCCTTGTCTCTGGTCC TCTTGAGTTTCTCCTAAAGGCATTCAAGCCTTTCCTTTCTCTTCCATCCC CTGCCTCACAAATGAACTTCAATACCCAGATCAAAGAAGCGGGAGGTCAG ACTCTTTCCTTTGGGATTTTCTGTTTGTTTATTTTAAAGAACGTTTCCAA TGGCAAAGGCCACAGCCCAACTTCTGGACTAGGAGAGTCATTAAGTGTAA GGCCCTTCCTGTCTTCCCATCACGGGACCCTCACAGAGACCTCAGAGTGT TGCCCCGTCCTACAGGCGCGCAAACAGGCTTGATAACTAGCGCGCCGCCT CAGTGTTTGTCCCCTCTCCTCTCTATCCGAGAAGCCCTGTTCAGGTGCCC CCACCAGCACGCCCGCTGTCTGGCCGCCTGGCTTTCCTGTGGGGTGCAGG AGTGCGCCCGGCCTCCTGCGGGTCTCCGGGCGGCGTCACCTCCTCTGAGG CTTCCCCTCCCTTTCCACCCCGTCGCTCTGACTGCCTTACGGAAAGGGCA CCAAGGAACTCTCGGGTGAAGCAGCTTCCTGTTCTCAGTGCTTTCCCTCC GTCCGGTGAGATTCCCAGTGAGACTGTTTGAATAAAATCACCTGGCAAAG GAAAAGCCCAAACTTTAGGGACCAGCCACGGCTGAGTAGGGGCTGAGCGG TGGCAGCCAATGAGATCTCGAGTCGGACGTGCAGGCCGCCGTTCCAATTG GGCGGCCGCCCCAGAGTAACCAATGGGAAGCGCGGGAAGGCCGGGAGGGG GCGGGAGCTCTCACCTGCCACTGGTCTAGGTGTCTGAGGAGCATCTTCCT GGCTCAGAGACCTTTTGCTCCAGGTGCTCATGCCGCAAATGGCAATCTGC GCGCGAACTAATTCGCGGCCGCATAATTTAATAACTTCCTCCATCCATGA GTCCGCGACTGCTCTGGAAAATTGGTTCAGTAGTAAACAGACTCCTAGCA GGTGGAAAAAAAACAGGCGAGGCATCCTGGGCCTGGTCTCTCCTGGAGGT CGGGACGTTGCAGCCTTTCAGGACTGCAGCTGCTGTGGCCTACACACCTG GGCCTGTGTGCCTGTCCCGGGCTTTAGGCTGCTTTCCCTACCCGGCTCAA GCGGTCTTTTGTATCCCTTGGGCTATCACTCAGCTTTTAAGGCAAGGGTG CCAGCTCCACCCCTTTCCCACACCCCTCCACAGAATTTTCCCCCTCAGCT CTTGGTCTCCCTCTCTGCCTTTCCTTCATTTGCCCATCCCTCTGTCCTTG GCCCTTTTACAGTTGTGTTCTTCTCATTCATTACCCTCAAACAATTTAGT ATACTGAGGTAAAGTCATTTTAGATATGAAGCCTTTCCTTTTACACACAC AGAAACAAATTTGAGATCACCCATATTCTTACAACTCAGTTTTCTAGAGT GAACATTTGCCAAAAAACCCTTCTAACCTAAATAAGATTATAGATTATCT TGTAAATTGGGTTAATTAGTATAGTGTTGGGTATATCAATCCATAAAAAT ATAAAAATAGAATGGATGAATAAATAAATTGTTGATGACAGGGAAAACTG ATGACTTTTAATCTGAATGCAGGTAAAAACATTAAAATCCCCAGTAACAT CATGTTAGGCTTGTGCAGTAATGTCTTTAATTTACAAAACAATTTCTCCA TTGCACTTTCCTTCCACTCTTGGGGATAAATTTGATTGTAACTAGTTATC TGAACATTTTAATTTAAAATTCTAATCTACATCTCTGGAGACTGGAGAAC ATACCACACACACACACACACACACACACACACACACACACACACACAGA GAGAGAGAGAGAGAGAGAGAGAAGAAAAAAAAGCAGTGGAAATCCCACAA TCCCACAAAGAATATTTTGGTAACAAATTACAGCACAAAGATATGTTTGT TTGTTTACTGTATTTTGTGTTTGCTGCACCTGGTAAGAGGTGATTTTTTA CCATCATTTAATTTAACTTTCTAAAGATCCACACTGTTCTAGGTAATATG GTTAGTAGACAACCCTTCTACCTGTAAATTTTTAGTACAAGTAGGTTCAT TTTTTAAAATAACTTACTTGCTTGTGTTCATAATATACTCAGATTAGTTC AGCTCCATCAGATAAACTGGAGACATGCAGGACATTAGGGTAGCTTTGAA ATAAAAGAATAACAATCTCTTAGTTACAAACATAACTATGGAATCAAATA ATTCTAATTTCTAGATTGCTGGTGATGTCAGTAGGCCCACTTAGCATTGG TCAAATGCCAAGCAATGTGTAATTCTTCAAAAAATACCTGACCAAGACTA TGAGATGGTCAGATGCAATCAATGCTTTTAAATGAGTTTTCATTAAAACA CGCAGTTTGAGAGAGGCCTCTCAAAACTGAGGTTTGAAAACATTTTTGTG GGTTGACAGTCCTTGTAAAAACAATCCATGTGCAAGGCTGTACTCCAAAG TAATTGGTCGTTAAAAATGTAAATTTCCAGGGATTTCTTTGTTTTTGTTT TTTGTTTTTTTTTTTTTTTTTTAACAGAATTTGGCTCTTGTCGCCAGGCT GGAGTGCAATGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTT CAAGCAATTCTCCTGCCTCAGCCTCTGAAGTAGCTGGGATTACAGGTGTG CACCACCACACCTGGCTAATTTTTGTATTTTTATTAGAGACTGGGTTTCA CCATGTTGGACAGGCTGGTCTGAAACTCCTGACCTCAGGTGATGCACCCA CCTTGGCCTCCCAAAGTGTCCAGGGATATTTTGATTTTTTATGTTGCCTA CATGGTTTTATAGAGTCCTTAAAACTGTCCAGTACAATGCCCGCTTTCCC ATTTTACAGAAAGAAGAAACAGATTGAGAGTTGTCATGCACTTATTCAGG GTAATTTTGGCCAGCACATATGCCAGATGTGGGCTTACCCTACTGCTAAG GATCACAGGCAAATGCAAGATTCACAGTCTTTACAGGCACAACTAAAAGG CATTTCAAGTCCTTTAAATAAAAAGGAAATCTTTTTAAGGAGAAACAATA AATATGTCCATGCATACAGCTGTCAATTGCTGGAGTTTGGGTTCCAACCC ATGTCTACTGGATTCCAACGCCCCCTTTCCTTCATTTCCCTATATCCTAG ATCCAGTTCCAGTTGTAGTTCATCTGAATAGTGAAGGTTAATATGTACAG AGTAATGTCTTTGAATGTAGGACAGCAGGAACATTCGAGGCTGTAAGTGC TAGACATGGTTTCCCAGTGTCTCTTACAAGTAGCAGTGTCTATGTGACAC AGTTCTGTCTAATACAACCTAAGCACAAGTGTGGAGGTTTCTGGGAAAGC CTTTATTTCCTGATTCTAGCCCTAAGCCTTATTTCTCCTTTCTTTCCTTC CTGAAGCAGACATAGAAAGGGAGGTGAAGTAGCCCTCTTGGGACCATGAG GTGTGGAGCATAAAGAGGAAGGTCTATATGCTTAGACACAGCTGCCTGGG AGGGTGGGAATAGCCTGCTGGCAACATTGAGGGGCTAAATGGGGTTGGAT GCTTTTTCTCACAGGCTCTTATAAGTAACTTTTTAAGGTTTTTCTGTTAT TTACTCTATCCTGAGATAGATAGATGATAGATAGGTGATAGATAGATGAT AGATAGATAGATAGAGGATAGATAGATAGATAGATAGATAGATAGATAGA TAGATGATAGATAGATAGTGTGTGTATATATATATATGTGCAAAATACAT TTTTATTAAGAAATAAACTTACAGTCATCAGTTTCCTATGAGAGTTTTAG GCATACTTTAGTGGCACTTGAATTAGATAGTCTAAGGATTGAAGTGATTA TTTGAGTGTTTATACTAGATGGTTTACCACAGGAAATCTTTGTACCACTG AAAGAGGAGTCATATATTGAAAAGCAGTGAATACAGATTCTGGGTCCAGA AGCCCTGCCTCCACGGATTTTGTGGAGGACAGGATGAGGGATGTGGGTCA GGATGGGCTCTGCCGAGCTGCTTTCTGCATCTGGGGGTGCATCTTTGTCT TGTCCAAGTTGTAAGTTTCCTGGGCATTGCCCTCGTCCTTCTGTGTTGGA ATCTCCATTTCATAGAGCACTCCTTTCAGCTTTGTCCCAGATGACAGGTG GCCTCTGAGCTTCTACAGCCCCATATTGAATTCCTTTGCTTGTGGCCTTC TACCTGCACCATCTTCCAGCGCCAACTTTGTCTATAGGGCTTTGCCAACA GTTGTAAGAGAAACTTATTTTTAAAATATATAAAACCCTGCTCTTTTATA TTTTACCACTAATCTCTTTTCCTAGTTTTGTATTTTCTACAAAATTCTTA TTGTTTCCCATGATCTGTCAACAACAGGCAACTCATACCTGATCCCAATG ACAGTCGGTGCTACATTGGATCTGTTTTTTTTCTAGTTTTTTTTTTAAAT TATTATTTCATTGAGATTTGGAGAATAAGAAGAAGTAAACACTTTTATTC AAGCCTCCAGTGCTGACTCTCCCCAGATGCCTTTGGAACTGCTCCAGATG TTTATGCTTTCCTTTCAGGTTATCATGCTGCTTTATCCAGAAGAATCAAA CAAGAAATGAAGGGCCATCGTGATCTTCAAAAAGTCTTCTTCTCAGCAAA CTGCTGGAAATACCTTGGTTAAGAGATTAGGAAAGATAAATAACTTCATT AGTTTTTTCCTCACTTCTTACTTCTACTCAAGTAATAGCGTATGTATGGA AAGAAAGTTCAGAAAGAATCACCCCTGGCCAGGTCTGGTGGTCCCAGTAA TCATCACCCAGGCCTCAGAGAAATTCAAAAACAAAAACAAAACAATAAGA TGTCACTGTTTGCTTTTATTGGGGTTTGTGGTTTTACTGTTATGCTGGGC ATTGGCTCTCACGTGTGTTCTCCAGTCTCTGACCATACAATCCAGCCATT GCCACAATCACATATGGAACATCACAAGGGACCCCAGAGCCCGGCTCTTC CATCTAAATTTAGGTTAAAATTAATGTCAAAGCATCAAGGGTTGATCTGT TCTATAAGGCCTAAAATTAATCCCAACATTATGTGCTGCCCTGACATCTG GTAAAACTGGGATGGCCTCACATGGCCTGACCACAAGTTTCCTCCCTCAC TCTGCTCCTGCAAAAAACCCTCCACTCAAGAGAGCCAGACACAGTTCCTG CTTATTCCTGAATAGCAAGTTTCAGCTCTCTGCCAGCCCTGGAATTATTC AAAGAAGGCAGTCACATCCTTTCGTGGTAACCAGGGGTCACCTTACCCTT TTGATACTGCAAAGCCTGCCTCACACGGCCCCTCTTATTCAGTCTGTTCC CAACTGCAACACCCACGTGGCCCTGCATGGCATTTAGTGTCCTTATCCTC CATCCTGTAATTCTATGTAATTAATAAATTTCTGTCAGTCTCATTAGGCC AGTATCACTTGTCATATGTTTGGCCATGTGCGTAATCCTAAGGCAGGAAT CCCTCCCACTCCAACAGGGTGAATAGGAGGTGATTAAAACAACCAACTAC TACAACATATCTCCTCCTCTTCTTTGTTCCTAGAGGGACAGAGGAGCCAG TTCAGACTGTATATAATGTGTTCTATGGTTCTCAGGATCTCTTTGCTACC TCTTCCCACATCCCTTCTCACTCTCTGCTCAGCGTTGATAGAAAATTAGT CTCTCTAATACAGAAATCATGATCCTTTTGTAACCCCTTCAGCTATTTCC CATTACCCCTAGCATGTAGTCTAAACTTCACAGCTGGCTTCTACAAGGTT CTTTAAGATCCCCTCTTCCTGTCTTCTCTCCAGGAGCATTTTCCTTTCCC TCTTCCACAACCCAGTCCTCAGTCCTACTCACTCCCTGACAGTTCCCCTA CATTCCATGCCCTGGACCATCGGCCTTGCCACTCCCTTTGCCTTTCCCTG TCCCTCCTCCGCCTCTCTTTCTTTGCTTATTTTCTTTTCAAAAGCAGATC AAGCATCAACTACATGATGGATCTTTTGCTAACCATCTCTTACACACTCA GCACCGCCCATCCCAGTTCCTCTACAGTCTGTTCCTTTTATCACAGCACT CACAACTCCTT	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00438.hp1 HG01884.hp1 HG02809.hp1 HG00438.hp1 HG01884.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0022 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0022	3	165	0.0182	-6860	c.-51 others(14): Show c.-5136_211+1513del		RLN2	ENSG00000107014.9	transcript	ENST00000381627.4	protein_coding	1/2						chr9	TogoVar
S100G_chrX_16645158_16659670	16650997	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00733.hp1 HG01069.hp1 HG01070.hp2 others(19): Show HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01884.hp2 HG02280.hp1 HG02572.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0038 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0004g0017	22	346	0.0636	0	c.-8- others(4): Show c.-8-2A>G		S100G	ENSG00000169906.5	transcript	ENST00000380200.3	protein_coding	1/2						chrX	TogoVar
SCAPER_chr15_76342904_76910340	76883817	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show HG00140.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0003 a0002c0011 others(5): Show a0002c0002 a0002c0003 a0002c0011 a0002c0015 a0002c0022 a0002c0023 a0002c0025 a0011c0024	a0002c0002t0002 a0002c0003t0002 a0002c0003t0005 others(9): Show a0002c0002t0002 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0011 a0002c0011t0002 a0002c0015t0002 a0002c0022t0002 a0002c0023t0002 a0002c0025t0002 a0011c0024t0002	a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(114): Show a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0275 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0003t0002g0186 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0191 a0002c0003t0002g0192 a0002c0003t0002g0193 a0002c0003t0002g0198 a0002c0003t0002g0199 a0002c0003t0002g0200 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0205 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0294 a0002c0003t0005g0195 a0002c0003t0006g0196 a0002c0003t0007g0249 a0002c0003t0011g0312 a0002c0011t0002g0225 a0002c0011t0002g0274 a0002c0011t0002g0285 a0002c0015t0002g0220 a0002c0015t0002g0276 a0002c0022t0002g0290 a0002c0023t0002g0228 a0002c0025t0002g0262 a0011c0024t0002g0284	117	310	0.3774	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	2/32	102/5033	1/4203	1/1400			chr15	TogoVar
SCART1_chr10_133448945_133474760	133457333	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp2 HG00609.hp2 others(90): Show HG00408.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp1 NA21309.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0003c0007 a0003c0008 others(16): Show a0003c0003 a0003c0007 a0003c0008 a0003c0009 a0003c0024 a0003c0027 a0003c0039 a0003c0040 a0003c0041 a0004c0005 a0004c0010 a0004c0015 a0004c0019 a0004c0020 a0004c0021 a0004c0043 a0004c0057 a0004c0058 a0004c0065	a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 others(20): Show a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 a0003c0009t0003 a0003c0009t0006 a0003c0024t0003 a0003c0027t0007 a0003c0039t0003 a0003c0040t0003 a0003c0041t0006 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0010t0003 a0004c0015t0001 a0004c0019t0007 a0004c0019t0008 a0004c0020t0005 a0004c0021t0003 a0004c0043t0005 a0004c0057t0003 a0004c0058t0019 a0004c0065t0003	a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(61): Show a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 a0003c0003t0003g0029 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0115 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0168 a0003c0007t0003g0099 a0003c0007t0003g0102 a0003c0007t0003g0104 a0003c0007t0003g0105 a0003c0007t0003g0106 a0003c0007t0003g0110 a0003c0007t0003g0112 a0003c0008t0003g0005 a0003c0008t0003g0007 a0003c0009t0003g0121 a0003c0009t0006g0024 a0003c0009t0006g0124 a0003c0024t0003g0103 a0003c0024t0003g0107 a0003c0024t0003g0137 a0003c0027t0007g0120 a0003c0027t0007g0125 a0003c0039t0003g0005 a0003c0040t0003g0127 a0003c0041t0006g0136 a0004c0005t0003g0027 a0004c0005t0003g0037 a0004c0005t0003g0054 a0004c0005t0003g0118 a0004c0005t0005g0164 a0004c0005t0005g0166 a0004c0005t0007g0144 a0004c0010t0003g0005 a0004c0010t0003g0023 a0004c0010t0003g0035 a0004c0010t0003g0095 a0004c0010t0003g0111 a0004c0015t0001g0001 a0004c0015t0001g0034 a0004c0015t0001g0073 a0004c0015t0001g0098 a0004c0019t0007g0119 a0004c0019t0008g0133 a0004c0019t0008g0134 a0004c0019t0008g0135 a0004c0020t0005g0030 a0004c0020t0005g0163 a0004c0021t0003g0100 a0004c0021t0003g0101 a0004c0021t0003g0108 a0004c0021t0003g0109 a0004c0043t0005g0165 a0004c0057t0003g0132 a0004c0058t0019g0060 a0004c0065t0003g0029	93	432	0.2153	-1	c.444 others(4): Show c.444delC	p.Glu others(5): Show p.Glu149fs	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	3/12	497/4929	444/3084	148/1027		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133464740	CTGGGGTG CTGGGGTG	C C	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(99): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp1	a0003 a0004 a0007 others(7): Show a0003 a0004 a0007 a0009 a0017 a0018 a0023 a0026 a0027 a0029	a0003c0003 a0003c0007 a0003c0008 others(24): Show a0003c0003 a0003c0007 a0003c0008 a0003c0009 a0003c0024 a0003c0027 a0003c0039 a0003c0040 a0004c0005 a0004c0010 a0004c0019 a0004c0020 a0004c0021 a0004c0043 a0004c0057 a0004c0058 a0004c0065 a0007c0016 a0007c0034 a0009c0025 a0009c0047 a0017c0060 a0018c0031 a0023c0050 a0026c0045 a0027c0033 a0029c0032	a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 others(28): Show a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 a0003c0009t0003 a0003c0009t0006 a0003c0024t0003 a0003c0027t0007 a0003c0039t0003 a0003c0040t0003 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0010t0003 a0004c0019t0007 a0004c0019t0008 a0004c0020t0005 a0004c0021t0003 a0004c0043t0005 a0004c0057t0003 a0004c0058t0019 a0004c0065t0003 a0007c0016t0004 a0007c0034t0003 a0009c0025t0003 a0009c0047t0004 a0017c0060t0003 a0018c0031t0003 a0023c0050t0004 a0026c0045t0004 a0027c0033t0004 a0029c0032t0004	a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(68): Show a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 a0003c0003t0003g0029 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0115 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0168 a0003c0007t0003g0099 a0003c0007t0003g0102 a0003c0007t0003g0104 a0003c0007t0003g0105 a0003c0007t0003g0106 a0003c0007t0003g0110 a0003c0007t0003g0112 a0003c0008t0003g0005 a0003c0008t0003g0007 a0003c0009t0003g0121 a0003c0009t0006g0024 a0003c0009t0006g0124 a0003c0024t0003g0103 a0003c0024t0003g0107 a0003c0024t0003g0137 a0003c0027t0007g0120 a0003c0027t0007g0125 a0003c0039t0003g0005 a0003c0040t0003g0127 a0004c0005t0003g0027 a0004c0005t0003g0037 a0004c0005t0003g0054 a0004c0005t0003g0118 a0004c0005t0005g0164 a0004c0005t0005g0166 a0004c0005t0007g0144 a0004c0010t0003g0005 a0004c0010t0003g0023 a0004c0010t0003g0035 a0004c0010t0003g0095 a0004c0010t0003g0111 a0004c0019t0007g0119 a0004c0019t0008g0133 a0004c0019t0008g0134 a0004c0019t0008g0135 a0004c0020t0005g0030 a0004c0020t0005g0163 a0004c0021t0003g0100 a0004c0021t0003g0101 a0004c0021t0003g0108 a0004c0021t0003g0109 a0004c0043t0005g0165 a0004c0057t0003g0132 a0004c0058t0019g0060 a0004c0065t0003g0029 a0007c0016t0004g0018 a0007c0016t0004g0050 a0007c0034t0003g0097 a0009c0025t0003g0031 a0009c0025t0003g0123 a0009c0047t0004g0055 a0017c0060t0003g0157 a0018c0031t0003g0122 a0023c0050t0004g0018 a0026c0045t0004g0138 a0027c0033t0004g0053 a0029c0032t0004g0018	102	431	0.2367	-7	c.211 others(16): Show c.2117_2123delTGTGGGG	p.Val others(5): Show p.Val706fs	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	7/12	2170/4929	2117/3084	706/1027		INFO_REALIGN_3_PRIME	chr10	TogoVar
SEC14L4_chr22_30483902_30510695	30495277	C C	A A	stop_gained stop_gained	HIGH	HG01099.hp2 HG01884.hp2 HG01891.hp1 others(11): Show HG01099.hp2 HG01884.hp2 HG01891.hp1 HG02717.hp1 HG02809.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1	a0004 a0008 a0004 a0008	a0004c0005 a0008c0018 a0004c0005 a0008c0018	a0004c0005t0006 a0008c0018t0006 a0004c0005t0006 a0008c0018t0006	a0004c0005t0006g0015 a0004c0005t0006g0020 a0004c0005t0006g0041 others(5): Show a0004c0005t0006g0015 a0004c0005t0006g0020 a0004c0005t0006g0041 a0004c0005t0006g0148 a0004c0005t0006g0157 a0004c0005t0006g0165 a0004c0005t0006g0168 a0008c0018t0006g0278	14	422	0.0332	0	c.400 others(3): Show c.400G>T	p.Glu others(4): Show p.Glu134*	SEC14L4	ENSG00000133488.15	transcript	ENST00000255858.12	protein_coding	5/12	484/2510	400/1221	134/406			chr22	TogoVar
SERPINB11_chr18_63697960_63728893	63712604	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(200): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0002 a0001c0005 a0001c0009 others(15): Show a0001c0002 a0001c0005 a0001c0009 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0032 a0004c0004 a0004c0007 a0004c0010 a0004c0017 a0004c0023 a0013c0031	a0001c0002t0001 a0001c0005t0002 a0001c0005t0006 others(18): Show a0001c0002t0001 a0001c0005t0002 a0001c0005t0006 a0001c0009t0001 a0001c0019t0004 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0022t0007 a0001c0027t0002 a0001c0028t0002 a0001c0029t0001 a0001c0030t0001 a0001c0032t0002 a0004c0004t0002 a0004c0004t0005 a0004c0007t0002 a0004c0010t0001 a0004c0017t0002 a0004c0023t0002 a0013c0031t0002	a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 others(79): Show a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0088 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0005t0002g0001 a0001c0005t0002g0026 a0001c0005t0002g0040 a0001c0005t0002g0042 a0001c0005t0002g0100 a0001c0005t0002g0106 a0001c0005t0002g0135 a0001c0005t0006g0001 a0001c0009t0001g0010 a0001c0009t0001g0015 a0001c0019t0004g0010 a0001c0020t0002g0001 a0001c0021t0002g0044 a0001c0021t0002g0116 a0001c0022t0001g0104 a0001c0022t0007g0001 a0001c0027t0002g0010 a0001c0028t0002g0001 a0001c0029t0001g0044 a0001c0030t0001g0001 a0001c0032t0002g0119 a0004c0004t0002g0005 a0004c0004t0002g0007 a0004c0004t0002g0016 a0004c0004t0002g0023 a0004c0004t0002g0027 a0004c0004t0002g0043 a0004c0004t0002g0096 a0004c0004t0002g0099 a0004c0004t0002g0117 a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0123 a0004c0004t0002g0125 a0004c0004t0002g0132 a0004c0004t0002g0133 a0004c0004t0005g0050 a0004c0007t0002g0011 a0004c0007t0002g0022 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0010t0001g0023 a0004c0017t0002g0118 a0004c0017t0002g0124 a0004c0023t0002g0095 a0013c0031t0002g0127	203	420	0.4833	0	c.268 others(3): Show c.268G>T	p.Glu others(3): Show p.Glu90*	SERPINB11	ENSG00000206072.13	transcript	ENST00000544088.6	protein_coding	4/8	330/1735	268/1179	90/392			chr18	TogoVar
SIGLEC11_chr19_49943985_49966172	49960562	TAGAA TAGAA	T T	frameshift_variant frameshift_variant	HIGH	HG00642.hp1 HG00733.hp1 HG00735.hp2 others(62): Show HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG04199.hp1 HG06807.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0004 a0007 a0012 others(3): Show a0004 a0007 a0012 a0014 a0015 a0020	a0004c0004 a0004c0008 a0004c0015 others(16): Show a0004c0004 a0004c0008 a0004c0015 a0004c0021 a0004c0022 a0004c0030 a0004c0032 a0004c0039 a0007c0009 a0007c0011 a0007c0043 a0007c0044 a0007c0045 a0007c0046 a0012c0025 a0012c0028 a0014c0026 a0015c0023 a0020c0047	a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 others(18): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 a0004c0008t0001 a0004c0015t0001 a0004c0021t0006 a0004c0022t0001 a0004c0030t0001 a0004c0032t0001 a0004c0039t0001 a0007c0009t0003 a0007c0011t0004 a0007c0043t0004 a0007c0044t0003 a0007c0045t0003 a0007c0046t0004 a0012c0025t0001 a0012c0028t0014 a0014c0026t0001 a0015c0023t0001 a0020c0047t0001	a0004c0004t0001g0008 a0004c0004t0001g0013 a0004c0004t0001g0014 others(33): Show a0004c0004t0001g0008 a0004c0004t0001g0013 a0004c0004t0001g0014 a0004c0004t0001g0112 a0004c0004t0001g0114 a0004c0004t0001g0115 a0004c0004t0002g0041 a0004c0004t0005g0111 a0004c0008t0001g0022 a0004c0008t0001g0040 a0004c0008t0001g0042 a0004c0008t0001g0110 a0004c0015t0001g0039 a0004c0015t0001g0107 a0004c0021t0006g0108 a0004c0021t0006g0109 a0004c0022t0001g0116 a0004c0022t0001g0117 a0004c0030t0001g0056 a0004c0032t0001g0070 a0004c0039t0001g0113 a0007c0009t0003g0011 a0007c0009t0003g0144 a0007c0011t0004g0049 a0007c0011t0004g0145 a0007c0011t0004g0146 a0007c0043t0004g0141 a0007c0044t0003g0142 a0007c0045t0003g0143 a0007c0046t0004g0147 a0012c0025t0001g0048 a0012c0028t0014g0054 a0014c0026t0001g0148 a0014c0026t0001g0149 a0015c0023t0001g0043 a0020c0047t0001g0150	65	450	0.1444	-4	c.446 others(11): Show c.446_449delTTCT	p.Phe others(5): Show p.Phe149fs	SIGLEC11	ENSG00000161640.15	transcript	ENST00000447370.6	protein_coding	2/11	540/3173	446/2097	149/698			chr19	TogoVar
SIGLEC12_chr19_51486227_51506800	51501537	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0017	a0001c0002 a0001c0003 a0001c0005 others(23): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0014 a0001c0019 a0001c0020 a0001c0029 a0001c0030 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0003c0016 a0003c0017 a0003c0025 a0003c0048 a0003c0052 a0007c0018 a0017c0031	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(27): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0010t0002 a0001c0012t0002 a0001c0014t0003 a0001c0019t0003 a0001c0020t0001 a0001c0029t0001 a0001c0030t0003 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0001c0040t0001 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0048t0001 a0003c0052t0002 a0007c0018t0001 a0017c0031t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0025 others(83): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0001g0083 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0003g0059 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0005g0084 a0001c0002t0005g0085 a0001c0002t0005g0086 a0001c0003t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0012 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0032 a0001c0003t0001g0063 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0102 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0029 a0001c0005t0001g0030 a0001c0005t0001g0054 a0001c0005t0001g0055 a0001c0005t0001g0056 a0001c0010t0002g0011 a0001c0012t0002g0031 a0001c0012t0002g0066 a0001c0012t0002g0076 a0001c0014t0003g0027 a0001c0019t0003g0034 a0001c0020t0001g0035 a0001c0029t0001g0052 a0001c0030t0003g0053 a0001c0032t0001g0061 a0001c0033t0001g0062 a0001c0034t0001g0101 a0001c0035t0001g0065 a0001c0036t0001g0067 a0001c0037t0001g0082 a0001c0038t0001g0098 a0001c0039t0001g0099 a0001c0040t0001g0103 a0003c0016t0001g0156 a0003c0016t0005g0047 a0003c0017t0006g0046 a0003c0017t0006g0155 a0003c0025t0005g0048 a0003c0048t0001g0139 a0003c0052t0002g0157 a0007c0018t0001g0050 a0007c0018t0001g0051 a0017c0031t0001g0057	228	430	0.5302	1	c.196 others(4): Show c.196dupG	p.Ala others(4): Show p.Ala66fs	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	263/2269	196/1788	66/595			chr19	TogoVar
SIGLEC5_chr19_51605960_51635401	51627678	G G	A A	stop_gained stop_gained	HIGH	HG01884.hp2 HG02258.hp1 HG02280.hp1 others(9): Show HG01884.hp2 HG02258.hp1 HG02280.hp1 HG02647.hp2 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp1 NA19240.hp1	a0005 a0005	a0005c0010 a0005c0013 a0005c0036 a0005c0010 a0005c0013 a0005c0036	a0005c0010t0001 a0005c0010t0014 a0005c0013t0001 others(1): Show a0005c0010t0001 a0005c0010t0014 a0005c0013t0001 a0005c0036t0001	a0005c0010t0001g0124 a0005c0010t0001g0154 a0005c0010t0001g0155 others(7): Show a0005c0010t0001g0124 a0005c0010t0001g0154 a0005c0010t0001g0155 a0005c0010t0001g0156 a0005c0010t0001g0158 a0005c0010t0001g0177 a0005c0010t0014g0159 a0005c0013t0001g0014 a0005c0013t0001g0160 a0005c0036t0001g0157	12	412	0.0291	0	c.106 others(4): Show c.1066C>T	p.Arg others(4): Show p.Arg356*	SIGLEC5	ENSG00000268500.7	transcript	ENST00000683636.1	protein_coding	6/9	1132/2993	1066/1656	356/551			chr19	TogoVar
SLC12A8_chr3_125077644_125217748	125135756	C C	A A	stop_gained stop_gained	HIGH	HG01884.hp2 HG01884.hp2	a0013 a0013	a0013c0029 a0013c0029	a0013c0029t0016 a0013c0029t0016	a0013c0029t0016g0352 a0013c0029t0016g0352	1	360	0.0028	0	c.649 others(3): Show c.649G>T	p.Glu others(4): Show p.Glu217*	SLC12A8	ENSG00000221955.11	transcript	ENST00000469902.6	protein_coding	6/14	743/3485	649/2145	217/714			chr3	TogoVar
SLC17A3_chr6_25839856_25879243	25861819	G G	A A	stop_gained stop_gained	HIGH	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0144 a0005c0007t0001g0144	1	366	0.0027	0	c.514 others(3): Show c.514C>T	p.Arg others(4): Show p.Arg172*	SLC17A3	ENSG00000124564.17	transcript	ENST00000397060.8	protein_coding	4/13	624/2052	514/1497	172/498			chr6	TogoVar
SLC28A1_chr15_84879662_84950798	84886788	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01884.hp2 HG02055.hp1 HG02257.hp2 others(9): Show HG01884.hp2 HG02055.hp1 HG02257.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG03130.hp2 HG03516.hp2 NA18906.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0021 a0001c0038 a0002c0039 others(3): Show a0001c0021 a0001c0038 a0002c0039 a0002c0062 a0003c0037 a0011c0060	a0001c0021t0001 a0001c0038t0001 a0002c0039t0001 others(3): Show a0001c0021t0001 a0001c0038t0001 a0002c0039t0001 a0002c0062t0003 a0003c0037t0001 a0011c0060t0001	a0001c0021t0001g0003 a0001c0021t0001g0260 a0001c0021t0001g0264 others(8): Show a0001c0021t0001g0003 a0001c0021t0001g0260 a0001c0021t0001g0264 a0001c0038t0001g0265 a0001c0038t0001g0266 a0002c0039t0001g0267 a0002c0039t0001g0268 a0002c0062t0003g0269 a0003c0037t0001g0262 a0003c0037t0001g0263 a0011c0060t0001g0261	12	394	0.0305	0	c.-17 others(5): Show c.-17+1G>A		SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	2/18						chr15	TogoVar
SLC4A4_chr4_71182259_71577083	71557709	C C	CA CA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01243.hp2 HG01884.hp1 HG02886.hp1 HG01243.hp2 HG01884.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0026 a0001c0001t0016 a0001c0001t0026	a0001c0001t0016g0001 a0001c0001t0016g0026 a0001c0001t0026g0005 a0001c0001t0016g0001 a0001c0001t0016g0026 a0001c0001t0026g0005	3	150	0.0200	1	c.276 others(7): Show c.2764-2dupA		SLC4A4	ENSG00000080493.19	transcript	ENST00000264485.11	protein_coding	21/25					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC4A4_chr4_71334020_71577083	71557709	C C	CA CA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01243.hp1 HG01884.hp2 HG02886.hp1 others(1): Show HG01243.hp1 HG01884.hp2 HG02886.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0024 a0001c0001t0001 a0001c0001t0018 a0001c0001t0024	a0001c0001t0001g0208 a0001c0001t0018g0152 a0001c0001t0018g0181 others(1): Show a0001c0001t0001g0208 a0001c0001t0018g0152 a0001c0001t0018g0181 a0001c0001t0024g0022	4	232	0.0172	1	c.263 others(7): Show c.2632-2dupA		SLC4A4	ENSG00000080493.19	transcript	ENST00000340595.4	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC6A18_chr5_1220381_1251189	1240642	C C	G G	stop_gained stop_gained	HIGH	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0006 a0007 others(4): Show a0001 a0006 a0007 a0008 a0010 a0013 a0015	a0001c0002 a0001c0005 a0001c0009 others(16): Show a0001c0002 a0001c0005 a0001c0009 a0001c0016 a0001c0029 a0001c0040 a0006c0008 a0006c0021 a0006c0044 a0006c0045 a0006c0046 a0006c0047 a0007c0007 a0008c0015 a0008c0022 a0008c0049 a0010c0012 a0013c0018 a0015c0024	a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 others(22): Show a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0002 a0001c0009t0001 a0001c0009t0002 a0001c0016t0001 a0001c0029t0002 a0001c0040t0004 a0006c0008t0003 a0006c0008t0004 a0006c0021t0004 a0006c0044t0003 a0006c0045t0004 a0006c0046t0004 a0006c0047t0004 a0007c0007t0002 a0008c0015t0004 a0008c0022t0003 a0008c0022t0004 a0008c0049t0004 a0010c0012t0003 a0010c0012t0004 a0013c0018t0004 a0015c0024t0002	a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0010 others(140): Show a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0024 a0001c0002t0001g0051 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0002t0001g0121 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0143 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0282 a0001c0002t0001g0303 a0001c0002t0001g0317 a0001c0002t0001g0354 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0028 a0001c0002t0002g0046 a0001c0002t0002g0051 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0099 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0127 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0141 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0157 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0257 a0001c0002t0002g0260 a0001c0002t0002g0280 a0001c0002t0002g0299 a0001c0002t0002g0302 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0325 a0001c0002t0002g0333 a0001c0002t0002g0342 a0001c0002t0002g0348 a0001c0002t0002g0349 a0001c0005t0001g0140 a0001c0005t0002g0005 a0001c0005t0002g0031 a0001c0005t0002g0048 a0001c0005t0002g0097 a0001c0005t0002g0108 a0001c0005t0002g0109 a0001c0005t0002g0111 a0001c0005t0002g0112 a0001c0005t0002g0113 a0001c0005t0002g0287 a0001c0005t0002g0324 a0001c0005t0002g0326 a0001c0005t0002g0332 a0001c0005t0002g0337 a0001c0009t0001g0129 a0001c0009t0002g0011 a0001c0009t0002g0053 a0001c0009t0002g0131 a0001c0009t0002g0133 a0001c0009t0002g0137 a0001c0009t0002g0145 a0001c0009t0002g0146 a0001c0009t0002g0147 a0001c0016t0001g0002 a0001c0016t0001g0073 a0001c0016t0001g0323 a0001c0016t0001g0336 a0001c0029t0002g0253 a0001c0040t0004g0270 a0006c0008t0003g0038 a0006c0008t0003g0165 a0006c0008t0003g0192 a0006c0008t0003g0193 a0006c0008t0003g0204 a0006c0008t0003g0220 a0006c0008t0004g0176 a0006c0008t0004g0178 a0006c0008t0004g0202 a0006c0008t0004g0207 a0006c0021t0004g0034 a0006c0021t0004g0170 a0006c0044t0003g0012 a0006c0045t0004g0172 a0006c0046t0004g0212 a0006c0047t0004g0201 a0007c0007t0002g0003 a0007c0007t0002g0019 a0007c0007t0002g0026 a0007c0007t0002g0050 a0007c0007t0002g0055 a0007c0007t0002g0074 a0007c0007t0002g0080 a0007c0007t0002g0318 a0008c0015t0004g0222 a0008c0015t0004g0228 a0008c0015t0004g0229 a0008c0015t0004g0230 a0008c0015t0004g0232 a0008c0022t0003g0231 a0008c0022t0003g0234 a0008c0022t0004g0236 a0008c0049t0004g0239 a0010c0012t0003g0039 a0010c0012t0003g0214 a0010c0012t0003g0215 a0010c0012t0003g0216 a0010c0012t0004g0213 a0010c0012t0004g0217 a0013c0018t0004g0013 a0013c0018t0004g0203 a0015c0024t0002g0018	181	453	0.3996	0	c.957 others(3): Show c.957C>G	p.Tyr others(4): Show p.Tyr319*	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	7/12	1054/2095	957/1887	319/628			chr5	TogoVar
SMAD5_chr5_136127845_136187733	136147819	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG06807.hp2 NA18522.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp2 NA18994.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 others(103): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0035 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0073 a0001c0001t0003g0132 a0001c0001t0005g0028 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0006g0006 a0001c0001t0006g0100 a0001c0001t0006g0103 a0001c0001t0006g0111 a0001c0001t0006g0116 a0001c0001t0007g0003 a0001c0001t0007g0067 a0001c0001t0010g0151 a0001c0001t0011g0024 a0001c0001t0011g0120 a0001c0001t0013g0064 a0001c0001t0013g0069 a0001c0001t0013g0075 a0001c0001t0014g0068 a0001c0001t0014g0130 a0001c0001t0014g0131 a0001c0001t0015g0022 a0001c0001t0015g0076 a0001c0001t0016g0077 a0001c0001t0016g0078 a0001c0001t0017g0070 a0001c0001t0017g0072 a0001c0001t0018g0015 a0001c0001t0020g0117 a0001c0001t0026g0005 a0001c0001t0027g0115 a0001c0001t0028g0063 a0001c0001t0029g0062 a0001c0001t0030g0003 a0001c0001t0031g0107 a0001c0001t0032g0071	140	282	0.4965	1	c.-24 others(7): Show c.-244-3dupT		SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
SMCO2_chr12_27441736_27507185	27474914	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0258 a0002c0003t0004g0258	1	358	0.0028	0	c.362 others(5): Show c.362+1G>A		SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	4/8						chr12	TogoVar
SNX27_chr1_151607050_151704080	151692406	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(81): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01168.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01884.hp1 HG01934.hp1 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02486.hp1 HG02615.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp2 HG03130.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18966.hp1 NA18971.hp2 NA18973.hp2 NA18985.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA19000.hp1 NA19004.hp1 NA19009.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0043 a0001c0001t0052 a0001c0001t0056 a0001c0001t0058 a0001c0001t0065 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0079 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0096 a0001c0001t0130 a0001c0006t0076 a0001c0007t0003 a0002c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0190 a0001c0001t0001g0213 others(81): Show a0001c0001t0001g0011 a0001c0001t0001g0190 a0001c0001t0001g0213 a0001c0001t0002g0288 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0315 a0001c0001t0003g0117 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0004g0207 a0001c0001t0004g0234 a0001c0001t0004g0272 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0114 a0001c0001t0006g0119 a0001c0001t0006g0172 a0001c0001t0006g0183 a0001c0001t0007g0164 a0001c0001t0007g0317 a0001c0001t0008g0193 a0001c0001t0009g0165 a0001c0001t0009g0175 a0001c0001t0010g0256 a0001c0001t0010g0257 a0001c0001t0010g0261 a0001c0001t0010g0262 a0001c0001t0010g0277 a0001c0001t0010g0278 a0001c0001t0010g0279 a0001c0001t0010g0337 a0001c0001t0012g0285 a0001c0001t0012g0329 a0001c0001t0013g0258 a0001c0001t0013g0259 a0001c0001t0013g0263 a0001c0001t0013g0264 a0001c0001t0013g0276 a0001c0001t0017g0126 a0001c0001t0019g0325 a0001c0001t0019g0330 a0001c0001t0019g0332 a0001c0001t0019g0333 a0001c0001t0019g0335 a0001c0001t0022g0133 a0001c0001t0022g0186 a0001c0001t0023g0118 a0001c0001t0023g0141 a0001c0001t0024g0343 a0001c0001t0024g0344 a0001c0001t0024g0347 a0001c0001t0025g0173 a0001c0001t0033g0342 a0001c0001t0034g0115 a0001c0001t0034g0177 a0001c0001t0039g0116 a0001c0001t0039g0132 a0001c0001t0043g0336 a0001c0001t0052g0359 a0001c0001t0056g0181 a0001c0001t0058g0341 a0001c0001t0065g0012 a0001c0001t0067g0128 a0001c0001t0069g0143 a0001c0001t0071g0139 a0001c0001t0079g0275 a0001c0001t0091g0331 a0001c0001t0092g0266 a0001c0001t0093g0274 a0001c0001t0096g0265 a0001c0001t0130g0243 a0001c0006t0076g0334 a0001c0007t0003g0142 a0002c0002t0001g0228	84	182	0.4615	1	c.124 others(7): Show c.1240-3dupT		SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATA22_chr17_3435019_3476819	3471678	GCA GCA	G G	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	HG00140.hp2 HG00733.hp1 HG01358.hp1 others(46): Show HG00140.hp2 HG00733.hp1 HG01358.hp1 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03831.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18954.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp2 NA18981.hp2 NA18988.hp2 NA18990.hp2 NA19002.hp2 NA19087.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0002c0002 a0006c0012 others(1): Show a0001c0001 a0002c0002 a0006c0012 a0009c0010	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0006c0012t0002 a0009c0010t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 others(39): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0002c0002t0001g0021 a0002c0002t0001g0057 a0002c0002t0002g0050 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0006c0012t0002g0277 a0009c0010t0001g0083	49	418	0.1172	-2	c.-74 others(13): Show c.-74+2_-74+3delTG		SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	1/8						chr17	TogoVar
SPATC1L_chr21_46156160_46189459	46183550	GCGGGGAG others(240): Show GCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGACCAGCC TGGGGGAGGAGACCAGCCTTGTGGGGGAGACCAGCCTGCGGGGGAGACCA GCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGTGAGGAGA CCAGCCTGGGGGAGGAGACCAGCTTGCGGGGGAGACCAGCCTGCGGGGGA GACCAGCCTGGGCGGGGAGATCAGCCTGGGGGAGGAGACCAGCCTGGT	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG01074.hp2 HG01884.hp1 HG01884.hp2 others(21): Show HG01074.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02723.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG06807.hp1 NA19043.hp2 NA20300.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0003 a0002c0002t0022 a0002c0002t0023 others(1): Show a0002c0002t0003 a0002c0002t0022 a0002c0002t0023 a0006c0007t0010	a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0044 others(15): Show a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0044 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0022g0045 a0002c0002t0023g0048 a0006c0007t0010g0054 a0006c0007t0010g0055 a0006c0007t0010g0059	24	250	0.0960	-247	c.-95 others(12): Show c.-958-23_-735del		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5				735		chr21	TogoVar
SPDYE3_chr7_100302702_100327196	100311775	A A	ACGTAGGT others(2770): Show ACGTAGGTCCCTTGGCTGCAAAAGGAAGAGGGAGTGTTTGGATGAATCTG ATGATGAGCCAGAGAAGGAGCTCGCCCCTGAGCCTGAGGAGACCTGGGTG GCGGAGACGCTGTGTGGCCTCAAGATGAAGGCGAAGCGACGGCGAGTGTC GCTCGTGCTCCCTGAGTACTACGAGGCCTTCAACAGGCTGCTTGGTAGGA GGACACCCCAGAGAGCACCTCCAATCCTGTTCTTTCTAAAAAGAGGAAAC TTCCAATAACCACACTTTTCCAATGGGAAAAATATGCCCCAGTGGGTGAG CTCTCCATGCGGGAGGACTCTGAAGTGATCACTCATGAGGGACACTTAGG AGACAACAGAGGATTAGGTAGACTTGATAAAGGTCGGTGCTTGGGATAAG AAAGCTTGGTTTTGGGCCAGGCGCTGTGGCTCCCGCCTGAGATCCCAGCA CGTTGGGAGGCTGAGGCAAGAGGATTGCTTGAACTCAGGACTTCGAGGCT GCAGTGAGCTATGACTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAA AACTCTGCGTCAAAAGAAAAACCAAGGCTGGGCACAGTAGCTCATGCCTG TAGTTCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAGCCTGGG AGGAAGAGGGTGCAGTGAGCCGAGATCGTGCTACTGCACTCCAGTCTGGG TGAGAGAGTGAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGAAAAA AAAGAAGGGTCAGAGGTCAGGAAGGAGAACCTGGGGAGGGTGTGTGGGAA GAATGGAGAAATTCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGC ACTTTGGGAAGCCAAGGCAGGTGGATCACGTGAGGCCAGGAGTTTGAGAC CAGCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAAGTACAAAATT GAGCTGGGCATTATGGCAGGCACCTGTAATCCCAGCTACCTGAGAGGCTG AGGCAGGAGAATAACTGGAATCCGGGAGATAGATGTTGCAGTCAGCTGAG ATTGCACCACTACACTCCAGCCTGGGTGACAAAGCAAGATTCTGTCTCGA AACAGAAAAAAAAAAGAGGGCCTCAGAGAGCCAGGGACCAGGGAACGATA TGACGCAGTGTTCTGAGGACAGAGAGAGGGAAGAATGGGGAGGGGAAGGA GTGGCACATGGGGTTGAGCAGAGGAGAAAGTCAGAAAGGTGGCTTGGAGA AGCCAGCAGTCTGAGAGGCTGGGGAGGATGGAGAGTGGTTTGGGGTTTGG GGTCGGGGTCTAACGTGATCAGTTGCAGAAGCATTACACGGTGGCCTGGT TTCTTTACTCAGCCCCTGGGGTAGATCCCAGCCCCCCACGTAGGTCCCTT GGCTGCAAAAGGAAGAGGGAGTGTTTGGATGAATCTGATGATGAGCCAGA GAAGGAGCTCGCCCCTGAGCCTGAGGAGACCTGGGTGGCGGAGACGCTGT GTGGCCTCAAGATGAAGGCGAAGCGACGGCGAGTGTCGCTCGTGCTCCCT GAGTACTACGAGGCCTTCAACAGGCTGCTTGGTAGGAGGACACCCCAGAG AGCACCTCCAATCCTGTTCTTTCTAAAAAGAGGAAACTTCCAATAACCAC ACTTTTCCAATGGGAAAAATATGCCCCAGTGGGTGAGCTCTCCATGCGGG AGGACTCTGAAGTGATCACTCATGAGGGACACTTAGGAGACAACAGAGGA TTAGGTAGACTTGATAAAGGTCGGTGCTTGGGATAAGAAAGCTTGGTTTT GGGCCAGGCGCTGTGGCTCCCGCCTGAGATCCCAGCACGTTGGGAGGCTG AGGCAAGAGGATTGCTTGAACTCAGGACTTTGAGGCTGCAGTGAGCTATG ACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGCGTCAA AAGAAAAACCAAGGCTGGGCACAGTAGCTCATGCCTGTAGTTCCAGCTAC TCGGGAGGCTGAGACAGGAGAATCGCTTGAGCCTGGGAGGAAGAGGGTGC AGTGAGCCGAGATCGTGCTACTGCACTCCAGTCTGGGTGAGAGAGTGAGA CGCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAAAAAAAGAAGGGT CAGAGGTCAGGAAGGAGAACCTGGGGAGGGTGTGTGGGAAGAATGGAGAA ATTCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAA GCCAAGGCAGGCGGATCACGTGAGGCCAGGAGTTTGAGACCAGCCTGGCC AACATGGTGAAACCCCCGTCTCTACTAAAAGTACAAAATTGAGCTGGGCA TTATGGCAGGCACCTGTAATCCCAGCTACCTGAGAGGCTGAGGCAGGAGA ATAACTGGAATCCGGGAGATAGATGTTGCAGTGAGCTGAGATTGCACCAC TACACTCCAGCCTGGGTGACAAAGCAAGATTCTGTCTCGAAACAAAAAAA AAAAAGAGGGCCTCAGAGAGCCAGGGACCAGGGAAGGATATGACGCAGTG TTCTGAGGACAGAGAGAGGGAAGAATGGGGAGGGGAAGGAGTGGCACATG GGGTTGAGCAGAGGAGAAAGTCAGAAAGGTGGCTTGGAGAAGCCAGCAGT CTGAGAGGCTGGGGAGGATGGAGAATGGTTTGGGGTTTGGGGTCGGGGTC TAACGTGATCAGTTGCAGAAGCATTACACGGTGGCCTGGTTTCTTTACTC AGCCCCTGGGGTAGATCCCAGCCCCCCG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0007 a0005c0008t0007	a0005c0008t0007g0029 a0005c0008t0007g0029	1	341	0.0029	2777	c.671 others(2784): Show c.671_672insGGAGACGCTGTGTGGCCTCAAGATGAAGGCGAAGCGAC GGCGAGTGTCGCTCGTGCTCCCTGAGTACTACGAGGCCTTCAACAGGCTG CTTGGTAGGAGGACACCCCAGAGAGCACCTCCAATCCTGTTCTTTCTAAA AAGAGGAAACTTCCAATAACCACACTTTTCCAATGGGAAAAATATGCCCC AGTGGGTGAGCTCTCCATGCGGGAGGACTCTGAAGTGATCACTCATGAGG GACACTTAGGAGACAACAGAGGATTAGGTAGACTTGATAAAGGTCGGTGC TTGGGATAAGAAAGCTTGGTTTTGGGCCAGGCGCTGTGGCTCCCGCCTGA GATCCCAGCACGTTGGGAGGCTGAGGCAAGAGGATTGCTTGAACTCAGGA CTTCGAGGCTGCAGTGAGCTATGACTGCACCACTGCACTCCAGCCTGAGT GACAGAGCAAAACTCTGCGTCAAAAGAAAAACCAAGGCTGGGCACAGTAG CTCATGCCTGTAGTTCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCT TGAGCCTGGGAGGAAGAGGGTGCAGTGAGCCGAGATCGTGCTACTGCACT CCAGTCTGGGTGAGAGAGTGAGACGCTGTCTCAAAAAAAAAAAAAAAAAA AGAAGAAAAAAAAGAAGGGTCAGAGGTCAGGAAGGAGAACCTGGGGAGGG TGTGTGGGAAGAATGGAGAAATTCAGGCTGGGTGCAGTGGCTCACACCTG TAATCCCAGCACTTTGGGAAGCCAAGGCAGGTGGATCACGTGAGGCCAGG AGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAA GTACAAAATTGAGCTGGGCATTATGGCAGGCACCTGTAATCCCAGCTACC TGAGAGGCTGAGGCAGGAGAATAACTGGAATCCGGGAGATAGATGTTGCA GTCAGCTGAGATTGCACCACTACACTCCAGCCTGGGTGACAAAGCAAGAT TCTGTCTCGAAACAGAAAAAAAAAAGAGGGCCTCAGAGAGCCAGGGACCA GGGAACGATATGACGCAGTGTTCTGAGGACAGAGAGAGGGAAGAATGGGG AGGGGAAGGAGTGGCACATGGGGTTGAGCAGAGGAGAAAGTCAGAAAGGT GGCTTGGAGAAGCCAGCAGTCTGAGAGGCTGGGGAGGATGGAGAGTGGTT TGGGGTTTGGGGTCGGGGTCTAACGTGATCAGTTGCAGAAGCATTACACG GTGGCCTGGTTTCTTTACTCAGCCCCTGGGGTAGATCCCAGCCCCCCACG TAGGTCCCTTGGCTGCAAAAGGAAGAGGGAGTGTTTGGATGAATCTGATG ATGAGCCAGAGAAGGAGCTCGCCCCTGAGCCTGAGGAGACCTGGGTGGCG GAGACGCTGTGTGGCCTCAAGATGAAGGCGAAGCGACGGCGAGTGTCGCT CGTGCTCCCTGAGTACTACGAGGCCTTCAACAGGCTGCTTGGTAGGAGGA CACCCCAGAGAGCACCTCCAATCCTGTTCTTTCTAAAAAGAGGAAACTTC CAATAACCACACTTTTCCAATGGGAAAAATATGCCCCAGTGGGTGAGCTC TCCATGCGGGAGGACTCTGAAGTGATCACTCATGAGGGACACTTAGGAGA CAACAGAGGATTAGGTAGACTTGATAAAGGTCGGTGCTTGGGATAAGAAA GCTTGGTTTTGGGCCAGGCGCTGTGGCTCCCGCCTGAGATCCCAGCACGT TGGGAGGCTGAGGCAAGAGGATTGCTTGAACTCAGGACTTTGAGGCTGCA GTGAGCTATGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAAAC TCTGCGTCAAAAGAAAAACCAAGGCTGGGCACAGTAGCTCATGCCTGTAG TTCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGCTTGAGCCTGGGAGG AAGAGGGTGCAGTGAGCCGAGATCGTGCTACTGCACTCCAGTCTGGGTGA GAGAGTGAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGAAGAAAAA AAAGAAGGGTCAGAGGTCAGGAAGGAGAACCTGGGGAGGGTGTGTGGGAA GAATGGAGAAATTCAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGC ACTTTGGGAAGCCAAGGCAGGCGGATCACGTGAGGCCAGGAGTTTGAGAC CAGCCTGGCCAACATGGTGAAACCCCCGTCTCTACTAAAAGTACAAAATT GAGCTGGGCATTATGGCAGGCACCTGTAATCCCAGCTACCTGAGAGGCTG AGGCAGGAGAATAACTGGAATCCGGGAGATAGATGTTGCAGTGAGCTGAG ATTGCACCACTACACTCCAGCCTGGGTGACAAAGCAAGATTCTGTCTCGA AACAAAAAAAAAAAAGAGGGCCTCAGAGAGCCAGGGACCAGGGAAGGATA TGACGCAGTGTTCTGAGGACAGAGAGAGGGAAGAATGGGGAGGGGAAGGA GTGGCACATGGGGTTGAGCAGAGGAGAAAGTCAGAAAGGTGGCTTGGAGA AGCCAGCAGTCTGAGAGGCTGGGGAGGATGGAGAATGGTTTGGGGTTTGG GGTCGGGGTCTAACGTGATCAGTTGCAGAAGCATTACACGGTGGCCTGGT TTCTTTACTCAGCCCCTGGGGTAGATCCCAGCCCCCCGCGTAGGTCCCTT GGCTGCAAAAGGAAGAGGGAGTGTTTGGATGAATCTGATGATGAGCCAGA GAAGGAGCTCGCCCCTGAGCCTGAGGAGACCTGGGTGGC	p.Ala others(5): Show p.Ala255fs	SPDYE3	ENSG00000214300.7	transcript	ENST00000332397.6	protein_coding	4/11	856/3185	672/1650	224/549		INFO_REALIGN_3_PRIME	chr7	TogoVar
SSU72_chr1_1536673_1579863	1574550	G G	T T	stop_gained stop_gained	HIGH	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0340 a0002c0003t0008g0340	1	384	0.0026	0	c.8C> others(1): Show c.8C>A	p.Ser others(2): Show p.Ser3*	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	1/5	314/1284	8/585	3/194			chr1	TogoVar
STAG2_chrX_123956706_124107656	124061743	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00735.hp2 HG01257.hp2 others(18): Show HG00140.hp1 HG00735.hp2 HG01257.hp2 HG01884.hp2 HG01993.hp1 HG02056.hp1 HG02148.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02896.hp2 HG03471.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 NA18906.hp2 NA18990.hp1 NA19082.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(18): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0001g0171 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0003t0001g0061	21	129	0.1628	2	c.153 others(15): Show c.1535-4_1535-3dupTT		STAG2	ENSG00000101972.20	transcript	ENST00000371145.8	protein_coding	16/34					INFO_REALIGN_3_PRIME	chrX	TogoVar
SYNE2_chr14_63848004_64231433	63993818	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00438.hp2 HG00609.hp2 others(75): Show HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01109.hp2 HG01257.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01993.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18949.hp2 NA18953.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18980.hp1 NA18986.hp1 NA18988.hp1 NA18994.hp1 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(38): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0012 a0015 a0016 a0017 a0019 a0020 a0023 a0024 a0026 a0028 a0031 a0032 a0034 a0035 a0040 a0041 a0043 a0046 a0047 a0049 a0050 a0051 a0052 a0053 a0055 a0057 a0061 a0062 a0063 a0065 a0069 a0070 a0071 a0073	a0001c0004 a0001c0005 a0001c0009 others(51): Show a0001c0004 a0001c0005 a0001c0009 a0001c0018 a0001c0025 a0001c0054 a0002c0001 a0002c0058 a0003c0002 a0003c0015 a0003c0034 a0003c0035 a0004c0003 a0006c0010 a0007c0007 a0011c0017 a0011c0043 a0012c0008 a0015c0016 a0016c0014 a0017c0012 a0019c0031 a0019c0032 a0020c0024 a0020c0048 a0023c0087 a0024c0041 a0024c0042 a0026c0037 a0028c0081 a0031c0038 a0032c0049 a0034c0072 a0035c0036 a0040c0029 a0041c0039 a0043c0050 a0046c0046 a0047c0027 a0049c0026 a0050c0082 a0051c0052 a0052c0040 a0053c0047 a0055c0059 a0057c0066 a0061c0033 a0062c0062 a0063c0061 a0065c0060 a0069c0051 a0070c0045 a0071c0030 a0073c0063	a0001c0004t0002 a0001c0005t0001 a0001c0005t0003 others(59): Show a0001c0004t0002 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0009t0002 a0001c0018t0001 a0001c0025t0002 a0001c0054t0001 a0002c0001t0001 a0002c0001t0003 a0002c0058t0002 a0003c0002t0001 a0003c0002t0006 a0003c0002t0009 a0003c0015t0002 a0003c0034t0001 a0003c0035t0002 a0004c0003t0002 a0004c0003t0003 a0004c0003t0004 a0006c0010t0004 a0007c0007t0001 a0011c0017t0003 a0011c0043t0001 a0012c0008t0003 a0015c0016t0001 a0015c0016t0005 a0016c0014t0001 a0017c0012t0001 a0019c0031t0004 a0019c0032t0001 a0020c0024t0001 a0020c0048t0001 a0023c0087t0002 a0024c0041t0001 a0024c0042t0002 a0026c0037t0001 a0028c0081t0004 a0031c0038t0002 a0032c0049t0002 a0034c0072t0002 a0035c0036t0001 a0040c0029t0003 a0041c0039t0004 a0043c0050t0005 a0046c0046t0001 a0047c0027t0001 a0049c0026t0002 a0050c0082t0001 a0051c0052t0005 a0052c0040t0002 a0053c0047t0003 a0055c0059t0002 a0057c0066t0004 a0061c0033t0002 a0062c0062t0001 a0063c0061t0002 a0065c0060t0007 a0069c0051t0002 a0070c0045t0001 a0071c0030t0003 a0073c0063t0004	a0001c0004t0002g0071 a0001c0005t0001g0032 a0001c0005t0003g0044 others(75): Show a0001c0004t0002g0071 a0001c0005t0001g0032 a0001c0005t0003g0044 a0001c0005t0004g0062 a0001c0009t0002g0027 a0001c0018t0001g0026 a0001c0018t0001g0065 a0001c0025t0002g0084 a0001c0054t0001g0046 a0002c0001t0001g0014 a0002c0001t0001g0078 a0002c0001t0003g0033 a0002c0058t0002g0038 a0003c0002t0001g0005 a0003c0002t0001g0006 a0003c0002t0001g0010 a0003c0002t0001g0091 a0003c0002t0001g0094 a0003c0002t0006g0093 a0003c0002t0009g0009 a0003c0015t0002g0011 a0003c0015t0002g0012 a0003c0034t0001g0015 a0003c0035t0002g0070 a0004c0003t0002g0051 a0004c0003t0002g0066 a0004c0003t0003g0052 a0004c0003t0004g0050 a0006c0010t0004g0079 a0006c0010t0004g0080 a0007c0007t0001g0143 a0007c0007t0001g0144 a0007c0007t0001g0145 a0011c0017t0003g0025 a0011c0017t0003g0088 a0011c0043t0001g0089 a0012c0008t0003g0007 a0012c0008t0003g0064 a0012c0008t0003g0095 a0015c0016t0001g0150 a0015c0016t0005g0148 a0016c0014t0001g0098 a0016c0014t0001g0099 a0017c0012t0001g0073 a0017c0012t0001g0097 a0019c0031t0004g0102 a0019c0032t0001g0103 a0020c0024t0001g0146 a0020c0048t0001g0043 a0023c0087t0002g0077 a0024c0041t0001g0036 a0024c0042t0002g0069 a0026c0037t0001g0013 a0028c0081t0004g0041 a0031c0038t0002g0028 a0032c0049t0002g0108 a0034c0072t0002g0018 a0035c0036t0001g0001 a0040c0029t0003g0086 a0041c0039t0004g0067 a0043c0050t0005g0042 a0046c0046t0001g0123 a0047c0027t0001g0083 a0049c0026t0002g0074 a0050c0082t0001g0100 a0051c0052t0005g0053 a0052c0040t0002g0149 a0053c0047t0003g0090 a0055c0059t0002g0049 a0057c0066t0004g0076 a0061c0033t0002g0075 a0062c0062t0001g0072 a0063c0061t0002g0034 a0065c0060t0007g0024 a0069c0051t0002g0047 a0070c0045t0001g0124 a0071c0030t0003g0101 a0073c0063t0004g0030	78	143	0.5455	1	c.264 others(7): Show c.2647-3dupT		SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	21/115					INFO_REALIGN_3_PRIME	chr14	TogoVar
TAC4_chr17_49833300_49853069	49838644	A A	C C	stop_lost stop_lost	HIGH	HG01884.hp1 NA19240.hp1 HG01884.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	2	404	0.0050	0	c.322 others(3): Show c.322T>G	p.Ter others(11): Show p.Ter108Gluext*?	TAC4	ENSG00000176358.16	transcript	ENST00000436235.6	protein_coding	5/5	374/718	322/324	108/107			chr17	TogoVar
TAS2R46_chr12_11056365_11067294	11061546	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp2 HG00544.hp2 HG00558.hp2 others(63): Show HG00140.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01943.hp2 HG01993.hp2 HG02056.hp2 HG02258.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG04199.hp2 NA18522.hp2 NA18940.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18995.hp1 NA19009.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19068.hp2 NA19078.hp2 NA19083.hp1 NA19087.hp1 NA20752.hp2	a0002 a0006 a0010 a0002 a0006 a0010	a0002c0002 a0006c0009 a0010c0010 a0002c0002 a0006c0009 a0010c0010	a0002c0002t0001 a0006c0009t0001 a0010c0010t0001 a0002c0002t0001 a0006c0009t0001 a0010c0010t0001	a0002c0002t0001g0000 a0006c0009t0001g0000 a0010c0010t0001g0000 a0002c0002t0001g0000 a0006c0009t0001g0000 a0010c0010t0001g0000	66	294	0.2245	0	c.749 others(3): Show c.749G>A	p.Trp others(4): Show p.Trp250*	TAS2R46	ENSG00000226761.3	transcript	ENST00000533467.1	protein_coding	1/1	749/930	749/930	250/309			chr12	TogoVar
TAS2R8_chr12_10801051_10812286	10806935	C C	A A	stop_gained stop_gained	HIGH	HG01884.hp2 HG03195.hp1 HG03486.hp1 HG01884.hp2 HG03195.hp1 HG03486.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	3	408	0.0074	0	c.46G others(2): Show c.46G>T	p.Glu others(3): Show p.Glu16*	TAS2R8	ENSG00000121314.3	transcript	ENST00000240615.3	protein_coding	1/1	352/1236	46/930	16/309			chr12	TogoVar
TBC1D19_chr4_26579084_26761223	26735441	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0002c0007 a0003c0008 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0005 a0001c0010t0001 a0002c0007t0001 a0003c0008t0006 a0004c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(269): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0002g0019 a0001c0001t0002g0116 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0008g0148 a0001c0001t0008g0209 a0001c0002t0002g0001 a0001c0002t0002g0154 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0010g0266 a0001c0003t0001g0011 a0001c0003t0001g0024 a0001c0003t0001g0026 a0001c0003t0001g0043 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0080 a0001c0003t0001g0099 a0001c0005t0001g0092 a0001c0005t0001g0102 a0001c0005t0001g0103 a0001c0005t0001g0104 a0001c0005t0001g0105 a0001c0005t0001g0106 a0001c0005t0001g0190 a0001c0006t0001g0211 a0001c0006t0005g0147 a0001c0006t0005g0207 a0001c0006t0005g0210 a0001c0010t0001g0034 a0002c0007t0001g0163 a0002c0007t0001g0164 a0002c0007t0001g0165 a0002c0007t0001g0166 a0003c0008t0006g0114 a0003c0008t0006g0115 a0004c0009t0001g0108	273	307	0.8893	1	c.108 others(7): Show c.1085-3dupT		TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
TBC1D31_chr8_123067707_123157153	123142457	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00323.hp2 HG00423.hp2 HG00438.hp2 others(86): Show HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp2 HG01168.hp1 HG01255.hp2 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp2 NA19062.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0001c0008 others(6): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0002c0006 a0002c0025 a0008c0020	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0009t0001 a0001c0012t0001 a0001c0013t0001 a0002c0006t0001 a0002c0025t0001 a0008c0020t0001	a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 others(85): Show a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0016 a0001c0003t0001g0031 a0001c0003t0001g0038 a0001c0003t0001g0041 a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0063 a0001c0003t0001g0065 a0001c0003t0001g0084 a0001c0003t0001g0120 a0001c0003t0001g0148 a0001c0003t0001g0157 a0001c0003t0001g0169 a0001c0003t0001g0172 a0001c0003t0001g0193 a0001c0003t0001g0196 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0223 a0001c0003t0001g0225 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0268 a0001c0003t0001g0303 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0008t0001g0042 a0001c0008t0001g0045 a0001c0008t0001g0049 a0001c0008t0001g0060 a0001c0008t0001g0238 a0001c0009t0001g0009 a0001c0009t0001g0010 a0001c0012t0001g0304 a0001c0012t0001g0305 a0001c0013t0001g0127 a0002c0006t0001g0007 a0002c0006t0001g0061 a0002c0006t0001g0064 a0002c0006t0001g0074 a0002c0006t0001g0249 a0002c0006t0001g0269 a0002c0006t0001g0316 a0002c0025t0001g0267 a0008c0020t0001g0222	89	320	0.2781	0	c.283 others(6): Show c.2835+1G>T		TBC1D31	ENSG00000156787.17	transcript	ENST00000287380.6	protein_coding	19/21						chr8	TogoVar
TCHHL1_chr1_152079141_152094064	152086802	G G	A A	stop_gained stop_gained	HIGH	HG01884.hp1 HG02055.hp2 HG02647.hp1 HG01884.hp1 HG02055.hp2 HG02647.hp1	a0002 a0002	a0002c0008 a0002c0018 a0002c0008 a0002c0018	a0002c0008t0001 a0002c0018t0001 a0002c0008t0001 a0002c0018t0001	a0002c0008t0001g0011 a0002c0018t0001g0024 a0002c0008t0001g0011 a0002c0018t0001g0024	3	374	0.0080	0	c.880 others(3): Show c.880C>T	p.Gln others(4): Show p.Gln294*	TCHHL1	ENSG00000182898.4	transcript	ENST00000368806.2	protein_coding	3/3	945/3606	880/2715	294/904			chr1	TogoVar
TIGD6_chr5_149988118_150005654	149996157	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00735.hp1 HG01069.hp1 HG01071.hp1 others(33): Show HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA21309.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0004c0006 a0004c0007 others(2): Show a0004c0004 a0004c0006 a0004c0007 a0004c0013 a0006c0008	a0004c0004t0006 a0004c0004t0009 a0004c0004t0017 others(5): Show a0004c0004t0006 a0004c0004t0009 a0004c0004t0017 a0004c0006t0003 a0004c0006t0015 a0004c0007t0003 a0004c0013t0012 a0006c0008t0008	a0004c0004t0006g0009 a0004c0004t0006g0016 a0004c0004t0006g0049 others(8): Show a0004c0004t0006g0009 a0004c0004t0006g0016 a0004c0004t0006g0049 a0004c0004t0006g0060 a0004c0004t0009g0019 a0004c0004t0017g0072 a0004c0006t0003g0010 a0004c0006t0015g0047 a0004c0007t0003g0021 a0004c0013t0012g0035 a0006c0008t0008g0018	36	434	0.0829	-1	c.191 others(4): Show c.191delG	p.Gly others(4): Show p.Gly64fs	TIGD6	ENSG00000164296.7	transcript	ENST00000296736.4	protein_coding	2/2	453/3493	191/1566	64/521			chr5	TogoVar
TLR8_chrX_12901620_12928169	12906707	A A	G G	start_lost others(1): Show start_lost splice_region_variant	HIGH	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0022 a0001c0023 a0001c0024	a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 others(12): Show a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 a0001c0007t0002 a0001c0007t0004 a0001c0007t0009 a0001c0011t0003 a0001c0014t0001 a0001c0015t0005 a0001c0016t0001 a0001c0017t0001 a0001c0018t0007 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0008g0001 a0001c0004t0001g0001 a0001c0004t0001g0003 a0001c0004t0001g0009 a0001c0004t0001g0063 a0001c0004t0001g0072 a0001c0004t0001g0073 a0001c0007t0002g0014 a0001c0007t0002g0025 a0001c0007t0002g0028 a0001c0007t0004g0010 a0001c0007t0004g0039 a0001c0007t0009g0010 a0001c0011t0003g0019 a0001c0011t0003g0055 a0001c0011t0003g0064 a0001c0014t0001g0056 a0001c0014t0001g0057 a0001c0014t0001g0058 a0001c0015t0005g0037 a0001c0015t0005g0065 a0001c0016t0001g0027 a0001c0017t0001g0001 a0001c0018t0007g0059 a0001c0018t0007g0070 a0001c0022t0001g0071 a0001c0023t0001g0001 a0001c0024t0001g0011	165	301	0.5482	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	TLR8	ENSG00000101916.12	transcript	ENST00000218032.7	protein_coding	1/2	88/4216	1/3126	1/1041			chrX	TogoVar
TMPRSS4_chr11_118072078_118126890	118094815	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19056.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0021 a0001c0001t0042 a0001c0001t0043 a0001c0002t0002 a0001c0002t0006 a0001c0002t0016 a0001c0002t0020 a0001c0002t0039 a0001c0002t0041 a0001c0012t0002 a0002c0003t0005 a0005c0006t0005 a0005c0006t0044	a0001c0001t0001g0108 a0001c0001t0002g0014 a0001c0001t0003g0026 others(116): Show a0001c0001t0001g0108 a0001c0001t0002g0014 a0001c0001t0003g0026 a0001c0001t0003g0129 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0024 a0001c0001t0004g0174 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0187 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0205 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0007g0183 a0001c0001t0021g0181 a0001c0001t0021g0190 a0001c0001t0042g0225 a0001c0001t0043g0197 a0001c0002t0002g0008 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0038 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0093 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0146 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0175 a0001c0002t0002g0198 a0001c0002t0002g0240 a0001c0002t0002g0245 a0001c0002t0002g0342 a0001c0002t0002g0362 a0001c0002t0006g0002 a0001c0002t0006g0008 a0001c0002t0006g0009 a0001c0002t0006g0083 a0001c0002t0006g0091 a0001c0002t0006g0092 a0001c0002t0006g0112 a0001c0002t0006g0115 a0001c0002t0006g0116 a0001c0002t0006g0117 a0001c0002t0006g0131 a0001c0002t0006g0145 a0001c0002t0006g0305 a0001c0002t0016g0002 a0001c0002t0016g0114 a0001c0002t0020g0203 a0001c0002t0039g0136 a0001c0002t0041g0110 a0001c0012t0002g0113 a0001c0012t0002g0123 a0002c0003t0005g0106 a0002c0003t0005g0156 a0002c0003t0005g0162 a0005c0006t0005g0005 a0005c0006t0005g0053 a0005c0006t0005g0055 a0005c0006t0005g0071 a0005c0006t0005g0121 a0005c0006t0005g0320 a0005c0006t0044g0054	130	404	0.3218	0	c.4-1 others(3): Show c.4-1A>G		TMPRSS4	ENSG00000137648.19	transcript	ENST00000437212.8	protein_coding	1/12						chr11	TogoVar
TMPRSS6_chr22_37060436_37114713	37069345	C C	CTGGGGTG others(3): Show CTGGGGTGGGG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01099.hp2 HG01884.hp1 HG01884.hp2 others(9): Show HG01099.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02622.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG03195.hp1 NA19240.hp1 NA20129.hp1	a0001 a0013 a0001 a0013	a0001c0007 a0001c0017 a0001c0020 others(2): Show a0001c0007 a0001c0017 a0001c0020 a0001c0021 a0013c0053	a0001c0007t0001 a0001c0017t0001 a0001c0020t0001 others(3): Show a0001c0007t0001 a0001c0017t0001 a0001c0020t0001 a0001c0020t0009 a0001c0021t0001 a0013c0053t0001	a0001c0007t0001g0030 a0001c0007t0001g0102 a0001c0007t0001g0156 others(9): Show a0001c0007t0001g0030 a0001c0007t0001g0102 a0001c0007t0001g0156 a0001c0007t0001g0157 a0001c0007t0001g0159 a0001c0017t0001g0131 a0001c0020t0001g0019 a0001c0020t0009g0018 a0001c0020t0009g0085 a0001c0021t0001g0082 a0001c0021t0001g0083 a0013c0053t0001g0096	12	193	0.0622	10	c.184 others(24): Show c.1842-11_1842-2dupCCCCACCCCA		TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	15/17						chr22	TogoVar
TOGARAM2_chr2_28976298_29057230	29002592	C C	T T	stop_gained stop_gained	HIGH	HG01884.hp1 HG02451.hp1 HG06807.hp1 HG01884.hp1 HG02451.hp1 HG06807.hp1	a0024 a0024	a0024c0096 a0024c0097 a0024c0098 a0024c0096 a0024c0097 a0024c0098	a0024c0096t0001 a0024c0097t0001 a0024c0098t0001 a0024c0096t0001 a0024c0097t0001 a0024c0098t0001	a0024c0096t0001g0300 a0024c0097t0001g0301 a0024c0098t0001g0298 a0024c0096t0001g0300 a0024c0097t0001g0301 a0024c0098t0001g0298	3	340	0.0088	0	c.484 others(3): Show c.484C>T	p.Arg others(4): Show p.Arg162*	TOGARAM2	ENSG00000189350.13	transcript	ENST00000379558.5	protein_coding	5/20	835/3548	484/3060	162/1019			chr2	TogoVar
TPSD1_chr16_1251069_1264008	1256558	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00423.hp2 HG00639.hp2 others(69): Show HG00140.hp1 HG00423.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01346.hp1 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02602.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18962.hp1 NA18980.hp1 NA18982.hp2 NA18998.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0012 a0002c0018 others(3): Show a0002c0002 a0002c0012 a0002c0018 a0002c0019 a0004c0004 a0004c0007	a0002c0002t0002 a0002c0002t0008 a0002c0002t0016 others(23): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0016 a0002c0002t0018 a0002c0002t0042 a0002c0002t0080 a0002c0002t0081 a0002c0002t0082 a0002c0002t0083 a0002c0002t0084 a0002c0002t0085 a0002c0002t0086 a0002c0002t0092 a0002c0012t0002 a0002c0012t0028 a0002c0018t0088 a0002c0019t0078 a0004c0004t0002 a0004c0004t0006 a0004c0004t0077 a0004c0004t0079 a0004c0004t0090 a0004c0007t0087 a0004c0007t0089 a0004c0007t0091 a0004c0007t0093	a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 others(28): Show a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0008g0005 a0002c0002t0008g0016 a0002c0002t0016g0005 a0002c0002t0018g0002 a0002c0002t0042g0013 a0002c0002t0080g0015 a0002c0002t0081g0002 a0002c0002t0082g0005 a0002c0002t0083g0002 a0002c0002t0084g0002 a0002c0002t0085g0002 a0002c0002t0086g0002 a0002c0002t0092g0002 a0002c0012t0002g0002 a0002c0012t0028g0002 a0002c0018t0088g0002 a0002c0019t0078g0002 a0004c0004t0002g0002 a0004c0004t0006g0002 a0004c0004t0006g0012 a0004c0004t0077g0012 a0004c0004t0079g0002 a0004c0004t0090g0002 a0004c0007t0087g0008 a0004c0007t0089g0008 a0004c0007t0091g0008 a0004c0007t0093g0008	72	268	0.2687	-1	c.127 others(4): Show c.127delG	p.Glu others(4): Show p.Glu43fs	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	2/5	339/1573	127/729	43/242		INFO_REALIGN_3_PRIME	chr16	TogoVar
TRIM51G_chr11_48970498_48988885	48978871	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(270): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 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 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0008 a0010 a0013	a0001c0001 a0001c0006 a0001c0011 others(7): Show a0001c0001 a0001c0006 a0001c0011 a0003c0003 a0005c0007 a0006c0008 a0007c0009 a0008c0017 a0010c0012 a0013c0013	a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 a0001c0011t0001 a0003c0003t0001 a0005c0007t0001 a0006c0008t0001 a0007c0009t0001 a0008c0017t0001 a0010c0012t0001 a0013c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0004g0056 a0001c0006t0003g0032 a0001c0006t0003g0046 a0001c0006t0003g0096 a0001c0006t0003g0097 a0001c0011t0001g0119 a0003c0003t0001g0001 a0003c0003t0001g0006 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0033 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0005c0007t0001g0108 a0005c0007t0001g0109 a0005c0007t0001g0113 a0006c0008t0001g0118 a0006c0008t0001g0124 a0007c0009t0001g0123 a0008c0017t0001g0125 a0010c0012t0001g0132 a0013c0013t0001g0129	273	422	0.6469	0	c.738 others(5): Show c.738+1G>C		TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/6						chr11	TogoVar
TRIM73_chr7_75390629_75410605	75403732	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp1 HG01123.hp1 HG01168.hp2 others(43): Show HG00140.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0008 a0002c0002 a0008c0008	a0002c0002t0001 a0008c0008t0001 a0002c0002t0001 a0008c0008t0001	a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0019 others(14): Show a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0034 a0002c0002t0001g0037 a0002c0002t0001g0101 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0125 a0008c0008t0001g0019	46	322	0.1429	0	c.487 others(3): Show c.487C>T	p.Arg others(4): Show p.Arg163*	TRIM73	ENSG00000178809.12	transcript	ENST00000323819.8	protein_coding	3/5	687/1350	487/753	163/250			chr7	TogoVar
TTC29_chr4_146701617_146950864	146937593	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	290	0.0034	0	c.176 others(5): Show c.176+1G>A		TTC29	ENSG00000137473.19	transcript	ENST00000325106.9	protein_coding	4/12						chr4	TogoVar
TYW1B_chr7_72569513_72833200	72728896	C C	T T	stop_gained stop_gained	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp2 others(117): Show HG00280.hp1 HG00323.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18985.hp1 NA18988.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0007 a0010 a0012	a0001c0001 a0001c0007 a0001c0018 others(11): Show a0001c0001 a0001c0007 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0004c0005 a0004c0010 a0004c0024 a0004c0025 a0005c0022 a0007c0012 a0010c0013 a0012c0015	a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 others(11): Show a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0004c0005t0001 a0004c0010t0001 a0004c0024t0001 a0004c0025t0001 a0005c0022t0001 a0007c0012t0001 a0010c0013t0004 a0012c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(117): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0274 a0001c0018t0001g0044 a0001c0019t0001g0088 a0001c0020t0001g0058 a0001c0021t0001g0067 a0004c0005t0001g0159 a0004c0005t0001g0160 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0165 a0004c0005t0001g0171 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0176 a0004c0005t0001g0177 a0004c0010t0001g0168 a0004c0010t0001g0169 a0004c0010t0001g0170 a0004c0024t0001g0175 a0004c0025t0001g0161 a0005c0022t0001g0182 a0007c0012t0001g0166 a0007c0012t0001g0167 a0010c0013t0004g0001 a0012c0015t0001g0008	120	284	0.4225	0	c.111 others(4): Show c.1118G>A	p.Trp others(4): Show p.Trp373*	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	9/14	1243/3117	1118/2007	373/668			chr7	TogoVar
TYW1B_chr7_72569513_72833200	72744551	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(208): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0006 a0007 a0008 a0010 a0012	a0001c0001 a0001c0002 a0001c0006 others(18): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0004c0005 a0004c0010 a0004c0024 a0004c0025 a0005c0008 a0005c0022 a0005c0023 a0006c0009 a0007c0012 a0008c0011 a0010c0013 a0012c0015	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(19): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0004c0005t0001 a0004c0010t0001 a0004c0024t0001 a0004c0025t0001 a0005c0008t0001 a0005c0008t0006 a0005c0022t0001 a0005c0023t0007 a0006c0009t0001 a0007c0012t0001 a0008c0011t0001 a0010c0013t0004 a0012c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(208): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0282 a0001c0006t0001g0141 a0001c0006t0001g0185 a0001c0006t0001g0191 a0001c0006t0001g0192 a0001c0006t0001g0193 a0001c0006t0001g0196 a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199 a0001c0006t0001g0203 a0001c0006t0001g0204 a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0274 a0001c0014t0001g0184 a0001c0018t0001g0044 a0001c0019t0001g0088 a0001c0020t0001g0058 a0001c0021t0001g0067 a0004c0005t0001g0159 a0004c0005t0001g0160 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0165 a0004c0005t0001g0171 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0176 a0004c0005t0001g0177 a0004c0010t0001g0168 a0004c0010t0001g0169 a0004c0010t0001g0170 a0004c0024t0001g0175 a0004c0025t0001g0161 a0005c0008t0001g0009 a0005c0008t0001g0011 a0005c0008t0001g0180 a0005c0008t0001g0181 a0005c0008t0001g0183 a0005c0008t0006g0010 a0005c0022t0001g0182 a0005c0023t0007g0178 a0006c0009t0001g0200 a0006c0009t0001g0201 a0006c0009t0001g0202 a0006c0009t0001g0281 a0007c0012t0001g0166 a0007c0012t0001g0167 a0008c0011t0001g0275 a0008c0011t0001g0276 a0010c0013t0004g0001 a0012c0015t0001g0008	211	284	0.7430	1	c.101 others(5): Show c.1014dupT	p.Glu others(5): Show p.Glu339fs	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	8/14	1139/3117	1014/2007	338/668			chr7	TogoVar
UGT2B10_chr4_68810994_68837023	68822269	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00609.hp2 HG01167.hp2 HG01884.hp2 others(60): Show HG00609.hp2 HG01167.hp2 HG01884.hp2 HG01934.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp1 HG04184.hp1 HG06807.hp2 NA18906.hp2 NA18944.hp1 NA18948.hp1 NA18949.hp2 NA18953.hp2 NA18955.hp1 NA18963.hp2 NA18971.hp1 NA18990.hp1 NA18994.hp1 NA18997.hp2 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19060.hp1 NA19066.hp2 NA19085.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0013 a0015	a0001c0001 a0001c0023 a0004c0006 others(4): Show a0001c0001 a0001c0023 a0004c0006 a0005c0007 a0006c0019 a0013c0017 a0015c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0023t0001 a0004c0006t0002 a0005c0007t0007 a0006c0019t0001 a0013c0017t0005 a0015c0015t0005	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(18): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0005g0014 a0001c0001t0005g0059 a0001c0001t0012g0058 a0001c0023t0001g0007 a0004c0006t0002g0034 a0005c0007t0007g0052 a0005c0007t0007g0053 a0005c0007t0007g0054 a0006c0019t0001g0013 a0013c0017t0005g0014 a0015c0015t0005g0055	63	460	0.1370	0	c.868 others(5): Show c.868-2A>C		UGT2B10	ENSG00000109181.12	transcript	ENST00000265403.12	protein_coding	2/5						chr4	TogoVar
UGT2B15_chr4_68641597_68675652	68647145	G G	A A	stop_gained stop_gained	HIGH	HG01243.hp1 HG01884.hp1 HG02572.hp2 HG01243.hp1 HG01884.hp1 HG02572.hp2	a0006 a0015 a0006 a0015	a0006c0006 a0015c0020 a0006c0006 a0015c0020	a0006c0006t0004 a0015c0020t0004 a0006c0006t0004 a0015c0020t0004	a0006c0006t0004g0186 a0006c0006t0004g0199 a0015c0020t0004g0272 a0006c0006t0004g0186 a0006c0006t0004g0199 a0015c0020t0004g0272	3	436	0.0069	0	c.155 others(4): Show c.1552C>T	p.Arg others(4): Show p.Arg518*	UGT2B15	ENSG00000196620.10	transcript	ENST00000338206.6	protein_coding	6/6	1586/2134	1552/1593	518/530			chr4	TogoVar
UNC13C_chr15_53973441_54633605	54338354	T T	TTGTC TTGTC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00738.hp1 HG01192.hp2 others(42): Show HG00099.hp2 HG00738.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01361.hp1 HG01884.hp2 HG01978.hp1 HG02132.hp1 HG02148.hp2 HG02258.hp1 HG02300.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18947.hp2 NA18953.hp1 NA18964.hp1 NA19030.hp1 NA19064.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0014	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0001c0021 a0001c0029 a0001c0032 a0001c0033 a0001c0034 a0001c0041 a0002c0015 a0002c0016 a0004c0026 a0005c0027 a0014c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0017 a0001c0001t0032 a0001c0001t0037 a0001c0001t0041 a0001c0001t0057 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0020 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0051 a0001c0003t0039 a0001c0003t0042 a0001c0003t0053 a0001c0005t0003 a0001c0012t0017 a0001c0021t0013 a0001c0029t0046 a0001c0032t0004 a0001c0033t0033 a0001c0034t0058 a0001c0041t0025 a0002c0015t0012 a0002c0016t0004 a0004c0026t0001 a0005c0027t0008 a0014c0030t0014	a0001c0001t0001g0044 a0001c0001t0002g0102 a0001c0001t0007g0016 others(42): Show a0001c0001t0001g0044 a0001c0001t0002g0102 a0001c0001t0007g0016 a0001c0001t0014g0083 a0001c0001t0017g0136 a0001c0001t0032g0099 a0001c0001t0037g0158 a0001c0001t0041g0118 a0001c0001t0057g0145 a0001c0001t0059g0147 a0001c0002t0001g0034 a0001c0002t0001g0040 a0001c0002t0002g0063 a0001c0002t0002g0082 a0001c0002t0006g0112 a0001c0002t0009g0133 a0001c0002t0009g0134 a0001c0002t0010g0007 a0001c0002t0013g0153 a0001c0002t0020g0020 a0001c0002t0022g0092 a0001c0002t0023g0098 a0001c0002t0024g0116 a0001c0002t0051g0157 a0001c0003t0039g0101 a0001c0003t0042g0107 a0001c0003t0053g0058 a0001c0005t0003g0066 a0001c0005t0003g0068 a0001c0005t0003g0097 a0001c0012t0017g0109 a0001c0012t0017g0117 a0001c0021t0013g0038 a0001c0021t0013g0039 a0001c0029t0046g0143 a0001c0032t0004g0056 a0001c0033t0033g0093 a0001c0034t0058g0149 a0001c0041t0025g0156 a0002c0015t0012g0047 a0002c0015t0012g0054 a0002c0016t0004g0055 a0004c0026t0001g0022 a0005c0027t0008g0073 a0014c0030t0014g0084	45	156	0.2885	4	c.458 others(17): Show c.4585-6_4585-3dupTGTC		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	16/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
USP17L4_chr8_7332115_7343707	7337385	G G	T T	stop_gained stop_gained	HIGH	HG01884.hp2 HG02818.hp1 NA19043.hp2 HG01884.hp2 HG02818.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	388	0.0077	0	c.271 others(3): Show c.271G>T	p.Glu others(3): Show p.Glu91*	USP17L4	ENSG00000236125.3	transcript	ENST00000526929.1	protein_coding	1/1	271/1593	271/1593	91/530			chr8	TogoVar

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