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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PRKCZ_chr1_2045411_2190395	2122637	GGTGGTTA others(131): Show GGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGG TGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGGTT AGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG04115.hp2 NA19005.hp2 others(1): Show HG01358.hp2 HG04115.hp2 NA19005.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0002t0001g0234 others(1): Show a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0002t0001g0234 a0001c0003t0001g0052	4	286	0.0140	-138	c.335 others(19): Show c.335-12619_335-12482del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB40C_chr16_585066_634268	612590	CAGGGACA others(131): Show CAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCT TTGCCTGTAGAATCAAGAGCAGGGACAGCTGCCCTGGCCTGTAGCATCAA GAGCAAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGC	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0295 a0001c0001t0002g0295	1	350	0.0029	-138	c.143 others(17): Show c.143-4582_143-4445del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAP1GAP2_chr17_2791438_3042741	2948446	GCAAGAGG others(131): Show GCAAGAGGGAAGGAACAGGTGGATGCCTGTCTGCAGGAGAAGCTGTGCCT GTGTGTAGAGCTGCTGTGGACCAGGGGGAGGCAGGGAGGGCACAGGGTGG TGATGAGATGGAGAGAAGGGGTCCTGGACTCGGGTGCAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0184 a0002c0003t0004g0184	1	218	0.0046	-138	c.166 others(17): Show c.166-9298_166-9161del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2948496	GTGTGTAG others(131): Show GTGTGTAGAGCTGCTGTGGACCAGGGGGAGGCAGGGAGGGCACAGGGTGG TGATGAGATGGAGAGAAGGGGTCCTGGACTCGGGTGCAACAAGAGGGAAG GAAGAGGTGGCTGCCTGTCTGCAGGAGAAGCCGTGTCCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01070.hp2 others(2): Show HG00423.hp1 HG00609.hp1 HG01070.hp2 HG03130.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0002t0029 a0001c0005t0030 others(2): Show a0001c0001t0001 a0001c0002t0029 a0001c0005t0030 a0001c0007t0048 a0001c0007t0086	a0001c0001t0001g0134 a0001c0002t0029g0056 a0001c0005t0030g0196 others(2): Show a0001c0001t0001g0134 a0001c0002t0029g0056 a0001c0005t0030g0196 a0001c0007t0048g0101 a0001c0007t0086g0012	5	218	0.0229	-138	c.166 others(17): Show c.166-9160_166-9023del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2948599	GAGGTGGC others(131): Show GAGGTGGCTGCCTGTCTGCAGGAGAAGCCGTGTCCATGTGTAGAGCTGCT GTGGACCAGGGGGAGGCAGGGAGGGCACAGGGTGGTGATGAGATGGAGAG AAGGGGTCCTGGACTCGGGTGCAACAAGAGGGAAGGAAC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA20905.hp2 HG02886.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0030 a0001c0001t0008 a0001c0002t0030	a0001c0001t0008g0086 a0001c0002t0030g0066 a0001c0001t0008g0086 a0001c0002t0030g0066	2	218	0.0092	-138	c.166 others(17): Show c.166-9132_166-8995del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114052912	GAGAGACC others(131): Show GAGAGACCCCCGCTGCTGACTGTACTTAGAGTCCTCGCTCCTGGGGGAGA AATCGCCACTGCTGACTGTGCGTAGAGTCCTCGCTCCTGGGGGAGAGACC CCCGCTGCTGACTGTGCTTAGAGTCCTGGCTCCTGGGGA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	67	0.0149	-138	c.174 others(15): Show c.174-895_174-758del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RNF115_chr1_145733868_145829095	145766666	CGGGGGGC others(131): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACAGGGCGGCTGGCCGGGGGGGGGGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG04199.hp1 HG04199.hp2 others(1): Show HG01361.hp2 HG04199.hp1 HG04199.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0072 a0001c0001t0002 a0001c0001t0003 a0001c0001t0072	a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0003g0229 others(1): Show a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0003g0229 a0001c0001t0072g0228	4	272	0.0147	-138	c.428 others(17): Show c.428+4907_428+5044del	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	4/8			chr1	TogoVar
RNF213_chr17_80255852_80403794	80314244	GTACTGGA others(131): Show GTACTGGAGGTGATGGTGGTAAAGGTGATGGTGGAGGTACTGGAGGTGAT GGTGGTGGACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGG TGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02486.hp2 HG00738.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0094 a0001c0001 a0001c0094	a0001c0001t0002 a0001c0094t0001 a0001c0001t0002 a0001c0094t0001	a0001c0001t0002g0115 a0001c0094t0001g0162 a0001c0001t0002g0115 a0001c0094t0001g0162	2	292	0.0069	-138	c.281 others(19): Show c.2811+1079_2811+1216del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314364	ATGGCGGT others(131): Show ATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGT GGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGG TGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18906.hp1 HG02647.hp1 NA18906.hp1	a0020 a0050 a0020 a0050	a0020c0031 a0050c0092 a0020c0031 a0050c0092	a0020c0031t0012 a0050c0092t0037 a0020c0031t0012 a0050c0092t0037	a0020c0031t0012g0026 a0050c0092t0037g0279 a0020c0031t0012g0026 a0050c0092t0037g0279	2	292	0.0069	-138	c.281 others(19): Show c.2811+1201_2811+1338del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314665	AGGTAATG others(131): Show AGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATG GTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGA GGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02280.hp2 HG01361.hp1 HG02280.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0049 a0013c0012t0056 a0013c0012t0049 a0013c0012t0056	a0013c0012t0049g0217 a0013c0012t0056g0192 a0013c0012t0049g0217 a0013c0012t0056g0192	2	292	0.0069	-138	c.281 others(19): Show c.2811+1502_2811+1639del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315375	GTAATGGA others(131): Show GTAATGGAGGTGATGGTGGTGGTGGTGGTGGTACTGGAGGTGATGGTGGA GGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTACTGGAGGTGATGGTGG AGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTAC	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0003 a0003	a0003c0077 a0003c0077	a0003c0077t0023 a0003c0077t0023	a0003c0077t0023g0056 a0003c0077t0023g0056	1	292	0.0034	-138	c.281 others(19): Show c.2812-1811_2812-1674del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	304029	GAGGGAGG others(131): Show GAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGT GTTTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATA ATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGTGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18612.hp2 NA19005.hp1 others(1): Show HG02622.hp1 NA18612.hp2 NA19005.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0024 a0001c0001t0031 others(1): Show a0001c0001t0014 a0001c0001t0024 a0001c0001t0031 a0001c0001t0037	a0001c0001t0014g0025 a0001c0001t0024g0083 a0001c0001t0031g0067 others(1): Show a0001c0001t0014g0025 a0001c0001t0024g0083 a0001c0001t0031g0067 a0001c0001t0037g0058	4	133	0.0301	-138	c.351 others(19): Show c.351+15253_351+15390del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPS6KA6_chrX_84053350_84193199	84191533	TATATATA others(131): Show TATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATCCATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02280.hp1 HG02615.hp1 others(2): Show HG00735.hp1 HG02280.hp1 HG02615.hp1 HG02922.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0019 a0001c0001t0078 others(1): Show a0001c0001t0014 a0001c0001t0019 a0001c0001t0078 a0001c0001t0081	a0001c0001t0014g0006 a0001c0001t0019g0005 a0001c0001t0078g0084 others(1): Show a0001c0001t0014g0006 a0001c0001t0019g0005 a0001c0001t0078g0084 a0001c0001t0081g0089	5	272	0.0184	-138	c.-37 others(11): Show c.-3772_-3635del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3335		chrX	TogoVar
RSU1_chr10_16585611_16822424	16645896	ATATACAC others(131): Show ATATACACATATATGTATATATATGTGTATATACACATATGTGTATATAT ATGTGTATATACATATATGTGTATATATATGTGTATATACATATATGTGT ATATATATGTGTATATACATATATGTGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19030.hp2 HG02258.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0057 a0001c0001t0053 a0001c0001t0057	a0001c0001t0053g0113 a0001c0001t0057g0115 a0001c0001t0053g0113 a0001c0001t0057g0115	2	190	0.0105	-138	c.731 others(19): Show c.731+48989_731+49126del	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
SH2D1A_chrX_124341563_124378160	124350619	GATAATAT others(131): Show GATAATATATTATATATTGTATATAAGATATAATATATTATATATTGTAT ATAAGATATAATATATTATATATTGTATATAAGATAATATATTATATATT GTATATAAGATATAATATATTATATATTGTATATAAGAT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp1 HG02257.hp2 HG00735.hp1 HG01433.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0244 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0244	3	318	0.0094	-138	c.137 others(17): Show c.137+3926_137+4063del	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHOX_chrX_625791_656584	643630	TCTGGTGT others(131): Show TCTGGTGTCCTGGGGAGAGGCTGGGGGACCTGGTGTCTCGGGAGAGAGCC TTGGGGACCTGGTGACCCGGGAGAGGCTTGGACACCTGGTGTCCCGGGAG AGGCTTGGGGACCTGGTGACCCGGGAGAGCCTTGGGGAC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA18956.hp2 HG02897.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0143 a0001c0001t0188 a0001c0001t0143 a0001c0001t0188	a0001c0001t0143g0104 a0001c0001t0188g0122 a0001c0001t0143g0104 a0001c0001t0188g0122	2	220	0.0091	-138	c.634 others(15): Show c.634-652_634-515del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC39A14_chr8_22362278_22427736	22396385	TAGAGAGA others(131): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAG AGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02258.hp2 HG02615.hp1 others(2): Show HG01192.hp1 HG02258.hp2 HG02615.hp1 HG03195.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0005 a0001c0007 others(1): Show a0001c0003 a0001c0005 a0001c0007 a0003c0001	a0001c0003t0011 a0001c0005t0008 a0001c0007t0006 others(1): Show a0001c0003t0011 a0001c0005t0008 a0001c0007t0006 a0003c0001t0001	a0001c0003t0011g0001 a0001c0005t0008g0306 a0001c0007t0006g0231 others(1): Show a0001c0003t0011g0001 a0001c0005t0008g0306 a0001c0007t0006g0231 a0003c0001t0001g0133	5	324	0.0154	-138	c.-15 others(17): Show c.-15-8300_-15-8163del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC39A8_chr4_102256666_102350482	102320375	TATGAGAA others(131): Show TATGAGAATATATATATGAGTATATATATATGAGAATATATATATGAGAA TATATATATATGAGAATATATATATGAGAGTATATATACATATGAGAATA TATATATGAGAGTATATATATATGAGAATATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	266	0.0038	-138	c.220 others(17): Show c.220-4683_220-4546del	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	2/8			chr4	TogoVar
SLC39A8_chr4_102256666_102350482	102320409	AATATATA others(131): Show AATATATATATGAGAATATATATATATGAGAATATATATATGAGAGTATA TATACATATGAGAATATATATATGAGAGTATATATATATGAGAATATATA TATGAGAGTATATATATATGAGAATATATATATGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01074.hp1 others(5): Show HG00642.hp2 HG00738.hp2 HG01074.hp1 HG02257.hp2 HG02622.hp1 HG02895.hp1 HG03654.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0010t0001	a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0002t0001g0105 others(5): Show a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0002t0001g0105 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0002g0127 a0001c0010t0001g0125	8	266	0.0301	-138	c.220 others(17): Show c.220-4717_220-4580del	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	2/8			chr4	TogoVar
SLC7A1_chr13_29504414_29600688	29558689	GTGAGGGG others(131): Show GTGAGGGGGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGA GAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGT GAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0289 a0001c0002t0009g0289	1	330	0.0030	-138	c.-11 others(19): Show c.-114-4967_-114-4830del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558948	GTGAGGCA others(131): Show GTGAGGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGA GAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGT GAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18957.hp2 NA18981.hp2 others(1): Show HG01167.hp1 NA18957.hp2 NA18981.hp2 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0166 a0001c0002t0002g0184 a0001c0002t0002g0185 others(1): Show a0001c0002t0002g0166 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0007g0021	4	330	0.0121	-138	c.-11 others(19): Show c.-114-5226_-114-5089del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A3_chr5_465456_529449	467387	GCTCAGCC others(131): Show GCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTC AGCCTAGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCC TAGAGGGTGCCTTCCTGATCCCCTCATGTCTGACATCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02109.hp2 HG02145.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0213 a0002c0005t0006g0215 a0002c0005t0006g0213 a0002c0005t0006g0215	2	218	0.0092	-138	c.58 others(11): Show c.5854_*5991del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		3068		chr5	TogoVar
SLC9A3_chr5_465456_529449	468158	GTCTGACA others(131): Show GTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCT GACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTGACA TCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0165 a0002c0002t0003g0165	1	218	0.0046	-138	c.50 others(11): Show c.5083_*5220del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		2297		chr5	TogoVar
SMYD3_chr1_245744347_246512279	246395604	GGAACCCA others(131): Show GGAACCCACCATGGCTGGACAGGGAAGACGAACACACCACAGTCAGACAG GGAAGACGAACCCACCACAGTCAGACAGGGAAGACGAACCCACCATGGCT GGACAGGGAAGACGAACACACCAGTCAGACAGGGAAGAC	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	150	0.0067	-138	c.165 others(19): Show c.165-40648_165-40511del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNAP25_chr20_10213830_10312418	10233258	AAGATTCT others(131): Show AAGATTCTGTCACAGGATATTAAACTGGGTGGTGAATTCCCATTAAGCCT AAGATTCCTTCCAGACCTGCTTAGGCCACATCCCATGTAAGCTTTATGAA AATATATGCAACCCAGAGGGAAAAGATATGAATGTGATT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02970.hp2 HG03130.hp2 others(2): Show HG02886.hp2 HG02970.hp2 HG03130.hp2 HG03225.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0222 a0001c0001t0001g0240 a0001c0001t0004g0334 others(2): Show a0001c0001t0001g0222 a0001c0001t0001g0240 a0001c0001t0004g0334 a0001c0001t0011g0264 a0001c0002t0001g0335	5	340	0.0147	-138	c.-64 others(19): Show c.-64+14282_-64+14419del	SNAP25	ENSG00000132639.15	transcript	ENST00000254976.7	protein_coding	1/7			chr20	TogoVar
TMEM255A_chrX_120253650_120316461	120296916	TTATATAT others(131): Show TTATATATAATATTATATATATAATATTATATATATATTATATATAATAT ATAATATTATATATATTATATATATATTATATATAATATATAATATTATA TATATTATATATATATAATATATAATATATAATATAATA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	303	0.0033	-138	c.202 others(17): Show c.202-3003_202-2866del	TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8			chrX	TogoVar
TMEM255A_chrX_120253650_120316461	120296958	TATAATAT others(131): Show TATAATATATAATATTATATATATTATATATATATTATATATAATATATA ATATTATATATATTATATATATATAATATATAATATATAATATAATATAT ATAATATTATATATATTATATTATATTATAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA20129.hp1 HG02896.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0291 a0001c0001t0012g0290 a0001c0001t0004g0291 a0001c0001t0012g0290	2	303	0.0066	-138	c.202 others(17): Show c.202-3045_202-2908del	TMEM255A	ENSG00000125355.16	transcript	ENST00000371369.9	protein_coding	2/8			chrX	TogoVar
TMPRSS15_chr21_18264116_18408785	18315640	ACATGTAC others(131): Show ACATGTACCGTAGAACTTAAAGTATAATAAAATATATATATATAAAATAA TAAACATGAGTCCTTTGCCACAGCTCAAGGTGGAGCTAGCTTTGATACTG AGTAAATGACGAGTTAGTGGGTGCAGCACACCAACATGG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	314	0.0032	-138	c.192 others(17): Show c.1922-522_1922-385del	TMPRSS15	ENSG00000154646.9	transcript	ENST00000284885.8	protein_coding	16/24			chr21	TogoVar
TMPRSS2_chr21_41459305_41513158	41474775	AGTGAGGG others(131): Show AGTGAGGGGGTGGGTGAGGGGTGGGTGAGGTGGTGAGTGAGGGGGTGAAG GGGTGAGTGAGGGGGTGAGTGAGGGGGTGAAGGGGTGAGTGAGGGGGTGA GGGGGTGGGTGAGGGGTGGGTGAGGGGGTGAGTGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00639.hp1 HG00642.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0345 a0001c0012t0005g0346 a0001c0012t0005g0345 a0001c0012t0005g0346	2	382	0.0052	-138	c.728 others(17): Show c.728-1417_728-1280del	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TNC_chr9_115014575_115123157	115095524	GTATATAT others(131): Show GTATATATATATGTATATATATGTATATATATGTATATATATGTATATAT ATGTATATATATGTATATATATGTATATATATATGTATATATGTATATAT ATATGTATATATATGTATATATATATGTATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0055 a0055	a0055c0079 a0055c0079	a0055c0079t0023 a0055c0079t0023	a0055c0079t0023g0194 a0055c0079t0023g0194	1	366	0.0027	-138	c.-13 others(19): Show c.-136-4508_-136-4371del	TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	1/27			chr9	TogoVar
TOLLIP_chr11_1269371_1314632	1294352	GGTGTGTC others(131): Show GGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCATGGCTCAGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCGCGTGGCTCACAGTGTGTCT CCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG04199.hp2 HG01069.hp2 HG01071.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0029 a0001c0001t0004 a0001c0001t0029	a0001c0001t0004g0016 a0001c0001t0029g0308 a0001c0001t0004g0016 a0001c0001t0029g0308	3	348	0.0086	-138	c.183 others(17): Show c.183+1155_183+1292del	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TPO_chr2_1408463_1548673	1532790	CCCCCACA others(131): Show CCCCCACACTATGTGCAACCTCCTCAAATCCCCCCACTCTGCACAATCTC CCCAAATCCCCCCCACTCTGCGCAACCTCCTCAAATACCCCCAGTTTGCA ACCTCCCAAAATCTCCCTATGTGCAACCTCGCAAAATCT	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0066 a0003c0003t0005g0066	1	130	0.0077	-138	c.261 others(19): Show c.2619-7799_2619-7662del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF3IP3_chr1_209751053_209787310	209771707	ATGTGTGC others(131): Show ATGTGTGCAGGTGGAAGTGTACGTGTGCATGTGGAGGTGTGTGCGCGCAT GTGAAGGTGTGTGTGTATATGGAGGTGTGCGTGTGCATATGCAGGTGTGC GTGTGCATGTGAAGGTGTGTGTGTGCAGGTGGAGGTACG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	444	0.0023	-138	c.703 others(16): Show c.703-1082_703-945del	TRAF3IP3	ENSG00000009790.15	transcript	ENST00000367025.8	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TWIST2_chr2_238843085_238915534	238911788	CACACACG others(131): Show CACACACGCACACATCACACACACATGCATGCACACCACACACACATGCA TGCACACACACCACACACACGCACACATCACACACACATGCACACACACC ACACACACGCACACACCACACACACGCATGCACACACCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	338	0.0030	-138	c.19 others(11): Show c.1983_*2120del	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding		1255		chr2	TogoVar
TYMS_chr18_652653_678578	666969	TGATGGAG others(131): Show TGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAG ATGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGAT GGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01928.hp1 HG01106.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0312 a0001c0001t0005g0111 a0001c0001t0002g0312 a0001c0001t0005g0111	2	482	0.0042	-138	c.455 others(17): Show c.455-2097_455-1960del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UGGT2_chr13_95796580_96058401	95940626	GGTATTTT others(131): Show GGTATTTTTTGTAAAGATGGGGTCTTGCCATGTTGCTTAGGCTGGTATCG AATTCCTGGGCTCAAGCAATCCACCTCCTGCGGCCTCCCGAAGGGCTTGG CTTACAGGAACTTGCCACCACATCTGGATAAATTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	332	0.0030	-138	c.167 others(17): Show c.1678-673_1678-536del	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	15/38			chr13	TogoVar
VCX3B_chrX_8459830_8471510	8466675	AGGGAGGG others(131): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAG GAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0065 a0065	a0065c0086 a0065c0086	a0065c0086t0001 a0065c0086t0001	a0065c0086t0001g0007 a0065c0086t0001g0007	1	271	0.0037	-138	c.29 others(9): Show c.293_*430del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		166		chrX	TogoVar
VPS53_chr17_503668_719839	514180	TCCCATTT others(131): Show TCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGCGAAGGAACCCC ATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAAGGAACCCCATTT CCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAAGGAAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp2 HG02135.hp2 NA18944.hp1 others(5): Show HG02074.hp2 HG02135.hp2 NA18944.hp1 NA18994.hp1 NA19000.hp2 NA19010.hp2 NA19084.hp1 NA19087.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0005 a0002c0003 others(1): Show a0001c0002 a0001c0005 a0002c0003 a0003c0004	a0001c0002t0010 a0001c0002t0043 a0001c0005t0019 others(5): Show a0001c0002t0010 a0001c0002t0043 a0001c0005t0019 a0001c0005t0020 a0001c0005t0042 a0001c0005t0045 a0002c0003t0089 a0003c0004t0047	a0001c0002t0010g0087 a0001c0002t0043g0064 a0001c0005t0019g0006 others(5): Show a0001c0002t0010g0087 a0001c0002t0043g0064 a0001c0005t0019g0006 a0001c0005t0020g0005 a0001c0005t0042g0044 a0001c0005t0045g0009 a0002c0003t0089g0175 a0003c0004t0047g0017	8	232	0.0345	-138	c.48 others(11): Show c.4810_*4947del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	4810		chr17	TogoVar
VPS53_chr17_503668_719839	514218	CGAAGGAA others(131): Show CGAAGGAACCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAA GGAACCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGGGAAGGAA CCCCATTTCCAGCAGGTTATTCCGAGTGCTCTTCCTAGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0052 a0001c0016t0052	a0001c0016t0052g0099 a0001c0016t0052g0099	1	232	0.0043	-138	c.47 others(11): Show c.4772_*4909del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	4772		chr17	TogoVar
WDR7_chr18_56646359_57034792	57024511	GATTTCAC others(131): Show GATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAA TAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19090.hp2 HG03579.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0002t0001 a0001c0001t0023 a0001c0002t0001	a0001c0001t0023g0027 a0001c0002t0001g0015 a0001c0001t0023g0027 a0001c0002t0001g0015	2	144	0.0139	-138	c.427 others(19): Show c.4270-2449_4270-2312del	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR7_chr18_56646359_57034792	57024555	GCTATGAT others(131): Show GCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGG CAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTC ACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0105 a0001c0001t0011g0105	1	144	0.0069	-138	c.427 others(19): Show c.4270-2427_4270-2290del	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR7_chr18_56646359_57034792	57024604	GCAGGAAT others(131): Show GCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGT TATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0026 a0001c0001t0006g0026	1	144	0.0069	-138	c.427 others(19): Show c.4270-2311_4270-2174del	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR7_chr18_56646359_57034792	57024742	ACAGGAAT others(131): Show ACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGT TATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18945.hp2 HG03139.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0027 a0001c0003t0017 a0001c0001t0027 a0001c0003t0017	a0001c0001t0027g0033 a0001c0003t0017g0088 a0001c0001t0027g0033 a0001c0003t0017g0088	2	144	0.0139	-138	c.427 others(19): Show c.4270-2242_4270-2105del	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR7_chr18_56646359_57034792	57024811	ACAGGAAT others(131): Show ACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGATTT CACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAACTATGATAGT TATGTCCCTTATAGAATTTCACAAATCCCTATTCTCAGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	144	0.0069	-138	c.427 others(19): Show c.4270-2186_4270-2049del	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
WNK1_chr12_747579_916452	783633	CAAAAAAA others(131): Show CAAAAAAAAAAAAAAATTATCCAGGCACAGCGGCATGTGCCTGTAGTCCC AGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGA GACCAGGCTAGGCAACAAACCAAGATGCTGTCTCCACCA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(136): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18972.hp2 NA18984.hp1 NA18984.hp2 NA18992.hp2 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19068.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19083.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(9): Show a0001 a0002 a0005 a0006 a0008 a0009 a0012 a0014 a0015 a0016 a0017 a0019	a0001c0001 a0001c0018 a0001c0032 others(17): Show a0001c0001 a0001c0018 a0001c0032 a0001c0035 a0001c0037 a0001c0041 a0002c0002 a0002c0003 a0002c0009 a0002c0029 a0005c0006 a0006c0007 a0008c0013 a0009c0014 a0012c0042 a0014c0039 a0015c0036 a0016c0034 a0017c0033 a0019c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0018t0006 a0001c0032t0002 a0001c0035t0004 a0001c0037t0002 a0001c0041t0006 a0002c0002t0001 a0002c0002t0017 a0002c0002t0019 a0002c0002t0035 a0002c0003t0001 a0002c0003t0006 a0002c0003t0032 a0002c0003t0034 a0002c0009t0001 a0002c0009t0005 a0002c0009t0006 a0002c0029t0001 a0005c0006t0003 a0005c0006t0009 a0006c0007t0008 a0006c0007t0031 a0008c0013t0013 a0008c0013t0027 a0009c0014t0002 a0012c0042t0001 a0014c0039t0001 a0015c0036t0007 a0016c0034t0004 a0017c0033t0006 a0019c0038t0012	a0001c0001t0001g0004 a0001c0001t0001g0065 a0001c0001t0001g0067 others(135): Show a0001c0001t0001g0004 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0002g0001 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0196 a0001c0001t0002g0225 a0001c0001t0004g0002 a0001c0001t0004g0023 a0001c0001t0004g0030 a0001c0001t0004g0112 a0001c0001t0004g0125 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0140 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0149 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0163 a0001c0001t0006g0003 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0016 a0001c0001t0006g0018 a0001c0001t0007g0032 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0040 a0001c0001t0007g0044 a0001c0001t0007g0050 a0001c0001t0007g0051 a0001c0001t0007g0057 a0001c0001t0007g0058 a0001c0001t0007g0060 a0001c0001t0007g0070 a0001c0001t0007g0192 a0001c0001t0011g0150 a0001c0001t0011g0151 a0001c0001t0011g0155 a0001c0001t0011g0156 a0001c0001t0011g0188 a0001c0001t0012g0114 a0001c0001t0012g0133 a0001c0001t0018g0117 a0001c0001t0020g0154 a0001c0001t0021g0157 a0001c0001t0023g0127 a0001c0001t0025g0024 a0001c0001t0026g0126 a0001c0018t0006g0019 a0001c0032t0002g0064 a0001c0035t0004g0162 a0001c0037t0002g0147 a0001c0041t0006g0020 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0265 a0002c0002t0017g0111 a0002c0002t0017g0113 a0002c0002t0019g0120 a0002c0002t0035g0208 a0002c0003t0001g0022 a0002c0003t0001g0068 a0002c0003t0001g0168 a0002c0003t0001g0169 a0002c0003t0001g0171 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0177 a0002c0003t0001g0185 a0002c0003t0006g0122 a0002c0003t0006g0165 a0002c0003t0032g0176 a0002c0003t0034g0184 a0002c0009t0001g0164 a0002c0009t0001g0178 a0002c0009t0005g0043 a0002c0009t0006g0121 a0002c0029t0001g0161 a0005c0006t0003g0042 a0005c0006t0003g0100 a0005c0006t0003g0101 a0005c0006t0003g0102 a0005c0006t0003g0116 a0005c0006t0003g0119 a0005c0006t0003g0132 a0005c0006t0003g0138 a0005c0006t0003g0139 a0005c0006t0009g0041 a0005c0006t0009g0047 a0005c0006t0009g0048 a0005c0006t0009g0124 a0006c0007t0008g0281 a0006c0007t0031g0282 a0008c0013t0013g0033 a0008c0013t0013g0123 a0008c0013t0027g0179 a0009c0014t0002g0045 a0009c0014t0002g0049 a0012c0042t0001g0182 a0014c0039t0001g0118 a0015c0036t0007g0055 a0016c0034t0004g0098 a0017c0033t0006g0017 a0019c0038t0012g0115	139	284	0.4894	-138	c.759 others(19): Show c.759+29463_759+29600del	WNK1	ENSG00000060237.19	transcript	ENST00000315939.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZC3H3_chr8_143432659_143546447	143487031	ACCCCACC others(131): Show ACCCCACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCC CACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCACC ACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0042 a0003c0042	a0003c0042t0002 a0003c0042t0002	a0003c0042t0002g0111 a0003c0042t0002g0111	1	352	0.0028	-138	c.171 others(21): Show c.1716-11584_1716-11447del	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143487405	CCACCACG others(131): Show CCACCACGAAGCTCACACACAGAACAGCACCCGCTACACGGCCCCACCAC CACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCACCACG AAGCTCACACACAGAACAGCACCCGCTACACGGCCCCAT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0002 a0012c0012t0002	a0012c0012t0002g0303 a0012c0012t0002g0303	1	352	0.0028	-138	c.171 others(21): Show c.1716-11958_1716-11821del	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZIM2_chr19_56769547_56845726	56839352	TACCAACC others(131): Show TACCAACCAACCAGGGCAGCACCTGCACAGCAAACCTCAGCAGCCCCCAT CAAACATGGCGTCCAAGCGGGCAGGGCCTGAACAGATCGTCACATCTAAT GCTACCCAGTCACTTCAGCCTTGCCCCGCCCCATATGCC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp1 HG03209.hp1 HG03516.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0190 a0004c0006t0001g0191 a0004c0006t0001g0190 a0004c0006t0001g0191	2	370	0.0054	-138	c.-31 others(19): Show c.-314+1092_-314+1229del	ZIM2	ENSG00000269699.7	transcript	ENST00000629319.3	protein_coding	1/12			chr19	TogoVar
ZNF365_chr10_62369369_62407450	62369864	TATATATA others(131): Show TATATATATCTCATATATATGTCCCATATATATATATATCTCATATATAT GTCCCATATATATATATCTCATATATATGTCCCATATATATATATCTCAT ATATATGTCCCATATATATATATCTCATATATATGTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA19054.hp2 NA18988.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	2	350	0.0057	-138	c.-46 others(11): Show c.-4607_-4470del	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4504		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76393046	GAAGGCAG others(131): Show GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0165 a0001c0002t0165	a0001c0002t0165g0048 a0001c0002t0165g0048	1	346	0.0029	-138	c.181 others(21): Show c.1811-12881_1811-12744del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar

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