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
AKAP17A_chrX_1586604_1607520	1588884	ACTCCCTT others(104): Show ACTCCCTTCCCCTCCCCTCTCCTCCCCCCTTCCCCTCCCCTTCCCTTCCC TTCTTTCCTCCTATCCCCTCCTCCCCTCCCCTCCCTTCCCCTCCCCCCTC CCCTTTCCTCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	149	0.0067	-111	c.-29 others(11): Show c.-2904_-2794del	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		2719		chrX	TogoVar
ALOXE3_chr17_8090900_8123514	8107854	AAAGAAAG others(104): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0325 a0001c0002t0001g0325	1	420	0.0024	-111	c.168 others(17): Show c.1684+503_1684+613del	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
AMFR_chr16_56356452_56430545	56398020	TAATATAT others(104): Show TAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATAT ATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAAT GTATCATTTATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0209 a0001c0001t0045g0209	1	354	0.0028	-111	c.108 others(19): Show c.1085+3602_1085+3712del	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
AMTN_chr4_70513569_70537743	70516302	ATATATAT others(104): Show ATATATATATATATATATATATACGTATATATATATATACGTATATATAT ACATATATATGTATATATATACATGTATATATATACGTATATATATATAT ACGTATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	318	0.0031	-111	c.-23 others(11): Show c.-2367_-2257del	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2266		chr4	TogoVar
ARHGAP18_chr6_129571132_129715177	129625369	ATATATAT others(104): Show ATATATATTATATATTATATATTTATACATATGTATTATATATTATATAT AATATATATTATATATAATATATATTTTATATTATATATTATATATAATA TATATTTTATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG01192.hp2 others(18): Show HG00408.hp2 HG00558.hp1 HG01192.hp2 HG02129.hp1 HG02155.hp1 HG02257.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA18987.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0002c0002t0003 a0002c0002t0014 a0005c0005t0003	a0001c0001t0001g0142 a0001c0001t0002g0125 a0001c0001t0002g0223 others(18): Show a0001c0001t0001g0142 a0001c0001t0002g0125 a0001c0001t0002g0223 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0128 a0001c0001t0003g0133 a0001c0001t0003g0205 a0001c0001t0003g0219 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0237 a0001c0001t0008g0118 a0001c0001t0008g0228 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0031 a0002c0002t0003g0037 a0002c0002t0014g0045 a0005c0005t0003g0002	21	188	0.1117	-111	c.786 others(17): Show c.786+3873_786+3983del	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ATP8B4_chr15_49853238_50124233	50086275	TAATATAG others(104): Show TAATATAGAGATCTATATTTATTATATATAATAAAATAATATAGAGATCT ATATTTATTATATATAATTAATATAGAGATCTATATTTATTATATATAAT AAAATAATATAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0240 a0001c0001t0025g0240	1	239	0.0042	-111	c.29- others(17): Show c.29-12201_29-12091del	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79367197	GTGTGTAT others(104): Show GTGTGTATGCAGAGAAAGTGCCTCCTCAACCAGAGAGCACACATATCTTC ACCTCCACCGTGTGTACGCAGAGAAAGTGCCTCCTCAACCAGAGAGCACA CATATCTTCACC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02615.hp2 others(2): Show HG02055.hp1 HG02145.hp2 HG02615.hp2 HG02897.hp2 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0004 a0002c0005t0001 a0002c0005t0004	a0002c0005t0001g0183 a0002c0005t0001g0184 a0002c0005t0001g0188 others(2): Show a0002c0005t0001g0183 a0002c0005t0001g0184 a0002c0005t0001g0188 a0002c0005t0001g0244 a0002c0005t0004g0173	5	295	0.0169	-111	c.301 others(19): Show c.3013-5626_3013-5516del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BBS4_chr15_72681207_72743473	72725774	TCTTCCCC others(104): Show TCTTCCCCTTCCTCCTTCCCTCTTCCCCCATCCCCCTTCCCCCATCCCCC TTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCA TCCCCCTTTCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0208 a0002c0002t0001g0208	1	393	0.0025	-111	c.587 others(17): Show c.587+1121_587+1231del	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
C2CD4C_chr19_400445_414147	410763	GTCCTGGG others(104): Show GTCCTGGGGGTCTGTCCACTGCCCCTGCTGGGCCCGGATCCTGGGGATCT GTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCACT GCTGGGCCCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00673.hp2 others(27): Show HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01358.hp1 HG02074.hp2 HG02132.hp2 HG02165.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1 NA18906.hp2 NA18944.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18970.hp2 NA19010.hp2 NA19060.hp1 NA19064.hp1 NA19074.hp1 NA19079.hp1 NA19088.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(12): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0076 a0001c0001t0099 a0001c0001t0102 a0001c0002t0003 a0001c0002t0013 a0001c0002t0022 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0002c0003t0013 a0003c0005t0057	a0001c0001t0001g0001 a0001c0001t0013g0032 a0001c0001t0014g0009 others(12): Show a0001c0001t0001g0001 a0001c0001t0013g0032 a0001c0001t0014g0009 a0001c0001t0018g0015 a0001c0001t0076g0073 a0001c0001t0099g0079 a0001c0001t0102g0082 a0001c0002t0003g0002 a0001c0002t0013g0039 a0001c0002t0022g0024 a0001c0002t0070g0131 a0001c0002t0071g0132 a0001c0002t0072g0133 a0002c0003t0013g0118 a0003c0005t0057g0144	30	266	0.1128	-111	c.-19 others(11): Show c.-1909_-1799del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	411193	CCTGCTGG others(104): Show CCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01928.hp1 HG01943.hp2 others(7): Show HG01358.hp2 HG01928.hp1 HG01943.hp2 HG02004.hp1 HG02148.hp2 HG02273.hp2 HG02300.hp2 NA18973.hp2 NA18980.hp1 NA19067.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0005 a0005c0014 a0001c0001 a0003c0005 a0005c0014	a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 others(3): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 a0001c0001t0055 a0003c0005t0023 a0005c0014t0017	a0001c0001t0002g0033 a0001c0001t0016g0014 a0001c0001t0017g0018 others(3): Show a0001c0001t0002g0033 a0001c0001t0016g0014 a0001c0001t0017g0018 a0001c0001t0055g0068 a0003c0005t0023g0145 a0005c0014t0017g0122	10	281	0.0356	-111	c.-23 others(11): Show c.-2339_-2229del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2047		chr19	TogoVar
C7orf50_chr7_992006_1143247	1031358	AGACCAGA others(104): Show AGACCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCT GCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAG AGTGGTCCGGGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0143 a0001c0001t0007g0143	1	321	0.0031	-111	c.130 others(19): Show c.130-21326_130-21216del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031507	GGGCAGAG others(104): Show GGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTG CAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGA GTGGTCCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	281	0.0036	-111	c.130 others(19): Show c.130-21475_130-21365del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031581	CGGCAGAG others(104): Show CGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTG CAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGA GTGGTCCGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00558.hp2 others(58): Show HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02071.hp1 HG02080.hp2 HG02145.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02602.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03453.hp1 HG03710.hp2 HG04204.hp2 NA18522.hp2 NA18940.hp1 NA18948.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19007.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19079.hp2 NA19082.hp1 NA20300.hp2 NA20905.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0008 a0007c0004 a0001c0001 a0005c0008 a0007c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0005c0008t0001 a0007c0004t0002	a0001c0001t0001g0077 a0001c0001t0002g0213 a0001c0001t0002g0216 others(58): Show a0001c0001t0001g0077 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0298 a0001c0001t0005g0311 a0001c0001t0010g0119 a0001c0001t0012g0289 a0001c0001t0012g0292 a0001c0001t0012g0305 a0001c0001t0012g0309 a0001c0001t0012g0310 a0001c0001t0012g0318 a0001c0001t0013g0010 a0001c0001t0013g0012 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0015g0231 a0001c0001t0022g0019 a0001c0001t0027g0193 a0001c0001t0029g0225 a0001c0001t0030g0326 a0005c0008t0001g0051 a0007c0004t0002g0235	61	312	0.1955	-111	c.130 others(19): Show c.130-21549_130-21439del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031692	GGGCAGAG others(104): Show GGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTG CAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGA GTGGTCCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01358.hp2 HG02622.hp1 others(8): Show HG01099.hp1 HG01358.hp2 HG02622.hp1 HG02818.hp1 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp2 HG04228.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0005 a0001c0001t0008 a0004c0005t0008 a0001c0001t0005 a0001c0001t0008 a0004c0005t0008	a0001c0001t0005g0214 a0001c0001t0005g0223 a0001c0001t0005g0240 others(8): Show a0001c0001t0005g0214 a0001c0001t0005g0223 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0008g0165 a0001c0001t0008g0166 a0001c0001t0008g0169 a0001c0001t0008g0170 a0001c0001t0008g0171 a0004c0005t0008g0167	11	311	0.0354	-111	c.130 others(19): Show c.130-21660_130-21550del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CAB39L_chr13_49303650_49449064	49318520	GGGAAAGG others(104): Show GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0288 a0001c0002t0006g0288	1	305	0.0033	-111	c.835 others(17): Show c.835-7638_835-7528del	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(104): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0058 a0002c0008t0003g0058	1	131	0.0076	-111	c.226 others(19): Show c.2268-3516_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNG8_chr19_53957937_53995215	53962667	AATTATTA others(104): Show AATTATTAGCGGTGGTGGGGACTCCTCCGAGTGGGGTTAGTGGGATGGTG GGATGACTTTCTTGGGCAGAAGACAAGAGTGGAGAGAGATTTCATCTTAT TTATTAATTATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01081.hp1 others(16): Show HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01255.hp2 HG01496.hp2 HG02258.hp2 HG02615.hp1 HG02717.hp2 HG02809.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03927.hp1 HG04115.hp1 HG04204.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0016 others(9): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0016 a0001c0001t0026 a0001c0001t0032 a0001c0001t0034 a0001c0001t0053 a0001c0001t0095 a0001c0001t0096 a0001c0001t0106 a0001c0001t0118 a0001c0001t0134	a0001c0001t0002g0001 a0001c0001t0013g0167 a0001c0001t0016g0007 others(14): Show a0001c0001t0002g0001 a0001c0001t0013g0167 a0001c0001t0016g0007 a0001c0001t0016g0026 a0001c0001t0016g0063 a0001c0001t0016g0075 a0001c0001t0026g0044 a0001c0001t0026g0260 a0001c0001t0032g0007 a0001c0001t0034g0026 a0001c0001t0034g0077 a0001c0001t0053g0074 a0001c0001t0095g0045 a0001c0001t0096g0045 a0001c0001t0106g0169 a0001c0001t0118g0057 a0001c0001t0134g0079	19	368	0.0516	-111	c.-47 others(9): Show c.-475_-365del	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		269		chr19	TogoVar
CAMK2B_chr7_44212154_44330594	44227596	AGGGGGTG others(104): Show AGGGGGTGTGGGGGACAGAGGGAGTGTGGGGGACAGAGGAGGGTCTGGAG GACAGAGGGAGAGTGTAGGGAACAGAGGGGGTGTGGGGGACAGAAAAGGG CGTGAAGGGACC	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03491.hp1 HG03492.hp1 HG02683.hp2 HG03491.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0011 a0001c0002 a0002c0011	a0001c0002t0001 a0002c0011t0001 a0001c0002t0001 a0002c0011t0001	a0001c0002t0001g0007 a0002c0011t0001g0142 a0001c0002t0001g0007 a0002c0011t0001g0142	3	231	0.0130	-111	c.146 others(18): Show c.1469-1063_1469-953del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227597	GGGGGTGT others(104): Show GGGGGTGTGGGGGACAGAGGGAGTGTGGGGGACAGAGGAGGGTCTGGAGG ACAGAGGGAGAGTGTAGGGAACAGAGGGGGTGTGGGGGACAGAAAAGGGC GTGAAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA20905.hp2 HG02647.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0023 a0001c0008t0001g0212 a0001c0002t0001g0023 a0001c0008t0001g0212	2	240	0.0083	-111	c.146 others(18): Show c.1469-1064_1469-954del	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CCDC127_chr5_191868_223153	200930	GCCCCCAT others(104): Show GCCCCCATCACAGCCAGCCAGCGTCTACACAGCAGGCTGCCCCCATCACA GCCAGCGTCTACACAGCAGGCTGCCCCCATCACAGCCAGCCAGTGTCTAC ACAGCAGGCTGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00733.hp2 others(40): Show HG00140.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01169.hp2 HG01255.hp1 HG01346.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02109.hp2 HG02155.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp2 HG03669.hp2 NA18906.hp2 NA18970.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0009	a0001c0001t0163 a0001c0002t0014 a0001c0002t0015 others(31): Show a0001c0001t0163 a0001c0002t0014 a0001c0002t0015 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0207 a0001c0002t0208 a0001c0002t0209 a0001c0002t0210 a0001c0002t0211 a0001c0002t0212 a0001c0002t0213 a0001c0002t0214 a0001c0002t0215 a0001c0002t0216 a0001c0002t0217 a0001c0002t0218 a0001c0002t0219 a0001c0002t0220 a0001c0002t0221 a0001c0002t0222 a0001c0002t0223 a0001c0002t0224 a0001c0002t0225 a0001c0002t0226 a0001c0002t0227 a0001c0002t0228 a0001c0002t0229 a0001c0002t0230 a0001c0003t0041 a0001c0003t0201 a0005c0009t0206	a0001c0001t0163g0214 a0001c0002t0014g0043 a0001c0002t0014g0240 others(35): Show a0001c0001t0163g0214 a0001c0002t0014g0043 a0001c0002t0014g0240 a0001c0002t0015g0047 a0001c0002t0015g0272 a0001c0002t0043g0241 a0001c0002t0043g0253 a0001c0002t0044g0046 a0001c0002t0045g0262 a0001c0002t0045g0265 a0001c0002t0046g0045 a0001c0002t0207g0260 a0001c0002t0208g0246 a0001c0002t0209g0247 a0001c0002t0210g0259 a0001c0002t0211g0248 a0001c0002t0212g0249 a0001c0002t0213g0250 a0001c0002t0214g0251 a0001c0002t0215g0252 a0001c0002t0216g0254 a0001c0002t0217g0267 a0001c0002t0218g0266 a0001c0002t0219g0255 a0001c0002t0220g0256 a0001c0002t0221g0238 a0001c0002t0222g0258 a0001c0002t0223g0261 a0001c0002t0224g0263 a0001c0002t0225g0264 a0001c0002t0226g0239 a0001c0002t0227g0268 a0001c0002t0228g0273 a0001c0002t0229g0270 a0001c0002t0230g0271 a0001c0003t0041g0042 a0001c0003t0201g0232 a0005c0009t0206g0257	43	404	0.1064	-111	c.42 others(11): Show c.4256_*4366del	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	3/3	4256		chr5	TogoVar
CDC42EP5_chr19_54460026_54478296	54471849	TCCTCAGA others(104): Show TCCTCAGACCCAGGGGTCAAGACCCCCCAGCCCCTCCTCCCTCAGACCCA GGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCC CAGCCCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02055.hp1 HG02922.hp1 others(2): Show HG01255.hp2 HG02055.hp1 HG02922.hp1 HG02970.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0063	5	420	0.0119	-111	c.-14 others(17): Show c.-141-275_-141-165del	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDC42EP5_chr19_54460026_54478296	54471908	ACCCCCAG others(104): Show ACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGACCCCCCAGCCCTTCCTCCCTCAGACC CAGGAGTCCAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00639.hp1 others(49): Show HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00642.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01358.hp1 HG01891.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02129.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02735.hp1 HG02809.hp1 HG02965.hp1 HG03041.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04115.hp1 NA18522.hp2 NA18747.hp2 NA18946.hp1 NA18951.hp1 NA18952.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18995.hp2 NA19001.hp1 NA19004.hp2 NA19011.hp2 NA19056.hp2 NA19062.hp2 NA19068.hp2 NA19079.hp2 NA19089.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0007c0007	a0001c0001t0001 a0001c0002t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0006t0001 a0007c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0032 others(25): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0099 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0207 a0001c0002t0002g0011 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0139 a0001c0006t0001g0061 a0001c0006t0001g0062 a0007c0007t0001g0146	52	385	0.1351	-111	c.-14 others(17): Show c.-141-334_-141-224del	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDC42EP5_chr19_54460026_54478296	54471945	ACCCCAGC others(104): Show ACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCCAGCCCTT CCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01256.hp2 HG01258.hp1 others(17): Show HG00544.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01884.hp1 HG02055.hp2 HG02132.hp1 HG02630.hp2 HG03579.hp2 NA18948.hp2 NA18955.hp1 NA18967.hp1 NA18982.hp1 NA18983.hp1 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA19066.hp2 NA19090.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0008 a0001c0001t0001g0064 a0001c0001t0001g0109 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0064 a0001c0001t0001g0109 a0001c0001t0001g0110 a0002c0003t0001g0028 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0111	20	378	0.0529	-111	c.-14 others(17): Show c.-141-371_-141-261del	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDH7_chr18_65746012_65895337	65782028	CCCTTCCT others(104): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT CTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0016 a0001c0008t0016	a0001c0008t0016g0010 a0001c0008t0016g0010	1	122	0.0082	-111	c.210 others(19): Show c.210+18977_210+19087del	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11			chr18	TogoVar
CEP72_chr5_607340_658553	650854	TGGACTGT others(104): Show TGGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGT GAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGA CTGTGAGGCGTG	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0026 a0003c0003t0002g0026	1	79	0.0127	-111	c.177 others(19): Show c.1779-2132_1779-2022del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP46_chr10_132803392_132947570	132843729	TGGTGGGT others(104): Show TGGTGGGTGTTCCCAGGGTGCTGTGGGGCTCTGGTCTCAGTGGGTGTTCC CAGGGTGCTGTGGGGCTCTGGTCTCGGTGGGTGTTCCCAGGGTGCTGTGG GGCTGTGGTCTC	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0066 a0066	a0066c0046 a0066c0046	a0066c0046t0001 a0066c0046t0001	a0066c0046t0001g0181 a0066c0046t0001g0181	1	244	0.0041	-111	c.643 others(19): Show c.6438+2217_6438+2327del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	44/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132843778	CCAGGGTG others(104): Show CCAGGGTGCTGTGGGGCTCTGGTCTCGGTGGGTGTTCCCAGGGTGCTGTG GGGCTGTGGTCTCGGTGGGTGTTCCCAGGGTGCTGTGGGGCTCTGGTCTC GGTGGGTGTTCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG01074.hp2 others(12): Show HG00642.hp1 HG00673.hp2 HG01074.hp2 HG01255.hp2 HG01256.hp2 HG01517.hp2 HG01884.hp2 HG01993.hp2 HG02129.hp1 HG02145.hp1 HG02300.hp1 HG02559.hp2 HG03239.hp2 HG03669.hp1 NA20905.hp1	a0006 a0024 a0040 others(4): Show a0006 a0024 a0040 a0041 a0045 a0057 a0074	a0006c0004 a0024c0017 a0040c0087 others(4): Show a0006c0004 a0024c0017 a0040c0087 a0041c0077 a0045c0107 a0057c0104 a0074c0065	a0006c0004t0002 a0024c0017t0001 a0040c0087t0003 others(4): Show a0006c0004t0002 a0024c0017t0001 a0040c0087t0003 a0041c0077t0001 a0045c0107t0002 a0057c0104t0001 a0074c0065t0001	a0006c0004t0002g0025 a0006c0004t0002g0106 a0006c0004t0002g0107 others(12): Show a0006c0004t0002g0025 a0006c0004t0002g0106 a0006c0004t0002g0107 a0006c0004t0002g0108 a0006c0004t0002g0109 a0006c0004t0002g0110 a0006c0004t0002g0111 a0006c0004t0002g0113 a0006c0004t0002g0116 a0024c0017t0001g0197 a0040c0087t0003g0112 a0041c0077t0001g0127 a0045c0107t0002g0103 a0057c0104t0001g0236 a0074c0065t0001g0231	15	244	0.0615	-111	c.643 others(19): Show c.6438+2168_6438+2278del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	44/57			chr10	TogoVar
CHID1_chr11_862859_915810	881545	GGACCACG others(104): Show GGACCACGTCGGGCGGTAGGTTGGGTGGTGAGGGAAAGGACCACGTCGGG CGGTAGGTTGGGTGGTGAGGGAAAGGACCACGTCGGGCGGTAGGTTGGGT GGTGAGAGAAAT	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18957.hp1 NA18966.hp1 others(5): Show HG02155.hp1 NA18957.hp1 NA18966.hp1 NA18991.hp1 NA18998.hp1 NA19009.hp1 NA19010.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0004 a0001c0001t0001g0063 a0001c0001t0001g0115 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0063 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0021g0106	8	384	0.0208	-111	c.959 others(17): Show c.959+1492_959+1602del	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	10/12			chr11	TogoVar
CLDN6_chr16_3009712_3023183	3011462	ATTTTTGT others(104): Show ATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGG TCTCGATCTCTTAACCTTCCGATTTACCTGCTTCGGCCTCCCAAAGTGCT GGGATATCTAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG03139.hp1 HG01975.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0001 a0001c0003t0002 a0002c0002t0001	a0001c0003t0002g0003 a0002c0002t0001g0002 a0001c0003t0002g0003 a0002c0002t0001g0002	2	409	0.0049	-111	c.37 others(11): Show c.3786_*3896del	CLDN6	ENSG00000184697.7	transcript	ENST00000328796.5	protein_coding		3249		chr16	TogoVar
CLDN6_chr16_3009712_3023183	3011518	TCTCTTAA others(104): Show TCTCTTAACCTTCCGATTTACCTGCTTCGGCCTCCCAAAGTGCTGGGATA TCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAG GCTGGTCTCGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02809.hp2 others(5): Show HG02451.hp1 HG02630.hp1 HG02809.hp2 HG03098.hp2 HG03225.hp1 HG03516.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0011 a0001c0003t0001g0034 a0001c0003t0002g0003 others(2): Show a0001c0001t0001g0011 a0001c0003t0001g0034 a0001c0003t0002g0003 a0002c0002t0001g0055 a0002c0002t0002g0044	8	422	0.0190	-111	c.37 others(11): Show c.3730_*3840del	CLDN6	ENSG00000184697.7	transcript	ENST00000328796.5	protein_coding		3193		chr16	TogoVar
CLDN6_chr16_3009712_3023183	3011545	CGGCCTCC others(104): Show CGGCCTCCCAAAGTGCTGGGATATCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGA ATCGCCCACCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	1	422	0.0024	-111	c.37 others(11): Show c.3703_*3813del	CLDN6	ENSG00000184697.7	transcript	ENST00000328796.5	protein_coding		3166		chr16	TogoVar
CLDN6_chr16_3009712_3023183	3011560	CTGGGATA others(104): Show CTGGGATATCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATG TTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGAATCGCCCACCTTGGC CTCCCAAAGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(103): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00621.hp1 HG00673.hp2 HG00741.hp2 HG01081.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02293.hp1 HG02559.hp1 HG02735.hp2 HG02965.hp2 HG03471.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18954.hp2 NA18957.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18972.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp2 NA19012.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19065.hp1 NA19067.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19087.hp2 NA19091.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0005 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0006t0001 a0002c0002t0001 a0002c0005t0001 a0003c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0002g0025 a0001c0001t0005g0016 a0001c0001t0009g0048 a0001c0003t0001g0008 a0001c0003t0001g0035 a0001c0003t0002g0003 a0001c0003t0008g0040 a0001c0006t0001g0017 a0002c0002t0001g0002 a0002c0002t0001g0030 a0002c0002t0001g0049 a0002c0005t0001g0009 a0003c0008t0001g0020	106	422	0.2512	-111	c.36 others(11): Show c.3688_*3798del	CLDN6	ENSG00000184697.7	transcript	ENST00000328796.5	protein_coding		3151		chr16	TogoVar
CLDN9_chr16_3007923_3019505	3011462	ATTTTTGT others(104): Show ATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGG TCTCGATCTCTTAACCTTCCGATTTACCTGCTTCGGCCTCCCAAAGTGCT GGGATATCTAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG03139.hp1 HG01975.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0002g0000 a0001c0001t0004g0000	2	413	0.0048	-111	c.-19 others(11): Show c.-1900_-1790del	CLDN9	ENSG00000213937.4	transcript	ENST00000445369.3	protein_coding		1460		chr16	TogoVar
CLDN9_chr16_3007923_3019505	3011518	TCTCTTAA others(104): Show TCTCTTAACCTTCCGATTTACCTGCTTCGGCCTCCCAAAGTGCTGGGATA TCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAG GCTGGTCTCGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02809.hp1 others(4): Show HG02451.hp1 HG02630.hp1 HG02809.hp1 HG03098.hp2 HG03225.hp2 HG03516.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0001c0001t0004 a0002c0002t0004	a0001c0001t0004g0000 a0002c0002t0004g0000 a0001c0001t0004g0000 a0002c0002t0004g0000	7	426	0.0164	-111	c.-18 others(11): Show c.-1844_-1734del	CLDN9	ENSG00000213937.4	transcript	ENST00000445369.3	protein_coding		1404		chr16	TogoVar
CLDN9_chr16_3007923_3019505	3011545	CGGCCTCC others(104): Show CGGCCTCCCAAAGTGCTGGGATATCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGA ATCGCCCACCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	426	0.0023	-111	c.-18 others(11): Show c.-1817_-1707del	CLDN9	ENSG00000213937.4	transcript	ENST00000445369.3	protein_coding		1377		chr16	TogoVar
CLDN9_chr16_3007923_3019505	3011560	CTGGGATA others(104): Show CTGGGATATCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATG TTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGAATCGCCCACCTTGGC CTCCCAAAGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(104): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00673.hp2 HG00741.hp2 HG01081.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02293.hp2 HG02559.hp1 HG02735.hp2 HG02965.hp2 HG03471.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18954.hp2 NA18957.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp2 NA19012.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp2 NA19067.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19091.hp2 NA20129.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0003c0008 a0001c0001 a0003c0006 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0003c0006t0001 a0003c0008t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(4): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0010g0000 a0001c0001t0011g0000 a0003c0006t0001g0000 a0003c0008t0001g0000	107	426	0.2512	-111	c.-18 others(11): Show c.-1802_-1692del	CLDN9	ENSG00000213937.4	transcript	ENST00000445369.3	protein_coding		1362		chr16	TogoVar
CNDP2_chr18_74491363_74528454	74514543	TTTATGTG others(104): Show TTTATGTGGTATGGATGTAAGTTCTGCAGCCTGTGGGCTTACGTGGTACG TATGTAAGTTCTGCAGGCTATAGGTTTATGTGGTATGGATGTAAGTTCTG CAGGCTGTAGGG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp1 HG03516.hp1 HG02976.hp2 HG03209.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0023 a0001c0003t0002 a0001c0003t0023	a0001c0003t0002g0037 a0001c0003t0002g0122 a0001c0003t0023g0037 a0001c0003t0002g0037 a0001c0003t0002g0122 a0001c0003t0023g0037	3	422	0.0071	-111	c.903 others(15): Show c.903+853_903+963del	CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CNOT1_chr16_58514951_58634826	58629006	GCAGGACC others(104): Show GCAGGACCGCCACTACTGCAGACACCGGACCGAGTAGGTGGGGGCCAACT TCAAAGAAAGTGTGAGCGCCCAGGCGCGCGAGTGGAACAAAACCTGTAGC AAGTAATAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0297 a0001c0004t0001g0297	1	306	0.0033	-111	c.-17 others(17): Show c.-175+611_-175+721del	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	1/48			chr16	TogoVar
COL18A1_chr21_45400165_45518720	45442599	GCTGGTGT others(104): Show GCTGGTGTGGGCGGCGGTCCTGGTGTGGGCAGCGGGGCTGGTGTGGGCAG CGGTGCTGGTGTGGGCGGCGGTCCTGGTGTGGGCGGTGGTGGTGCTGGTG TGGGCGGAGGTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(94): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01243.hp1 HG01361.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18975.hp1 NA18983.hp1 NA18999.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19064.hp2 NA19088.hp2 NA19240.hp2 NA20905.hp2	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0012 a0013 a0014 a0016 a0019 a0022 a0023 a0024 a0025 a0026 a0027 a0031	a0001c0001 a0001c0002 a0001c0003 others(48): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0015 a0001c0017 a0001c0022 a0001c0025 a0001c0026 a0001c0036 a0001c0043 a0001c0044 a0001c0045 a0001c0051 a0001c0052 a0001c0054 a0001c0066 a0001c0079 a0001c0095 a0002c0012 a0002c0020 a0002c0021 a0002c0080 a0002c0081 a0002c0100 a0003c0057 a0003c0097 a0004c0033 a0005c0053 a0005c0069 a0006c0016 a0007c0018 a0007c0098 a0011c0049 a0011c0099 a0012c0037 a0013c0085 a0014c0082 a0016c0040 a0019c0067 a0022c0046 a0023c0047 a0024c0065 a0025c0042 a0026c0056 a0027c0083 a0031c0063	a0001c0001t0001 a0001c0002t0012 a0001c0003t0001 others(52): Show a0001c0001t0001 a0001c0002t0012 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0005t0002 a0001c0007t0002 a0001c0009t0001 a0001c0010t0002 a0001c0010t0006 a0001c0015t0001 a0001c0017t0002 a0001c0022t0001 a0001c0025t0002 a0001c0026t0001 a0001c0036t0004 a0001c0043t0006 a0001c0044t0001 a0001c0045t0001 a0001c0051t0001 a0001c0052t0002 a0001c0054t0002 a0001c0066t0005 a0001c0079t0008 a0001c0095t0001 a0002c0012t0004 a0002c0020t0001 a0002c0020t0003 a0002c0021t0002 a0002c0080t0001 a0002c0081t0002 a0002c0100t0001 a0003c0057t0002 a0003c0097t0001 a0004c0033t0001 a0005c0053t0001 a0005c0069t0002 a0006c0016t0001 a0007c0018t0005 a0007c0098t0005 a0011c0049t0001 a0011c0099t0004 a0012c0037t0009 a0013c0085t0002 a0014c0082t0002 a0016c0040t0001 a0019c0067t0001 a0022c0046t0004 a0023c0047t0004 a0024c0065t0010 a0025c0042t0001 a0026c0056t0001 a0027c0083t0002 a0031c0063t0010	a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0122 others(94): Show a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0122 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0002t0012g0088 a0001c0003t0001g0252 a0001c0004t0001g0008 a0001c0004t0001g0059 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0079 a0001c0004t0001g0140 a0001c0004t0001g0149 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0181 a0001c0004t0001g0196 a0001c0004t0001g0224 a0001c0004t0001g0253 a0001c0004t0001g0286 a0001c0004t0001g0288 a0001c0004t0003g0265 a0001c0004t0008g0125 a0001c0005t0002g0146 a0001c0007t0002g0056 a0001c0007t0002g0133 a0001c0007t0002g0165 a0001c0007t0002g0197 a0001c0007t0002g0210 a0001c0007t0002g0223 a0001c0009t0001g0022 a0001c0009t0001g0127 a0001c0009t0001g0151 a0001c0009t0001g0247 a0001c0010t0002g0046 a0001c0010t0002g0138 a0001c0010t0002g0152 a0001c0010t0006g0014 a0001c0015t0001g0128 a0001c0015t0001g0172 a0001c0015t0001g0202 a0001c0017t0002g0158 a0001c0022t0001g0007 a0001c0022t0001g0111 a0001c0022t0001g0184 a0001c0025t0002g0132 a0001c0025t0002g0147 a0001c0026t0001g0182 a0001c0026t0001g0183 a0001c0036t0004g0018 a0001c0036t0004g0019 a0001c0043t0006g0245 a0001c0044t0001g0002 a0001c0045t0001g0047 a0001c0051t0001g0248 a0001c0052t0002g0055 a0001c0054t0002g0169 a0001c0066t0005g0036 a0001c0079t0008g0189 a0001c0095t0001g0006 a0002c0012t0004g0029 a0002c0020t0001g0010 a0002c0020t0001g0011 a0002c0020t0003g0144 a0002c0021t0002g0001 a0002c0021t0002g0135 a0002c0021t0002g0166 a0002c0080t0001g0240 a0002c0081t0002g0214 a0002c0100t0001g0116 a0003c0057t0002g0028 a0003c0097t0001g0037 a0004c0033t0001g0121 a0005c0053t0001g0061 a0005c0069t0002g0060 a0006c0016t0001g0062 a0007c0018t0005g0045 a0007c0018t0005g0110 a0007c0018t0005g0112 a0007c0098t0005g0017 a0011c0049t0001g0198 a0011c0099t0004g0199 a0012c0037t0009g0200 a0012c0037t0009g0201 a0013c0085t0002g0005 a0014c0082t0002g0085 a0016c0040t0001g0095 a0019c0067t0001g0012 a0022c0046t0004g0164 a0023c0047t0004g0163 a0024c0065t0010g0004 a0025c0042t0001g0035 a0026c0056t0001g0091 a0027c0083t0002g0154 a0031c0063t0010g0044	97	290	0.3345	-111	c.107 others(19): Show c.107-25502_107-25392del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL26A1_chr7_101357875_101564024	101489667	TCCTTCCT others(104): Show TCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCATT CTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTCTTTCTTTC TTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19240.hp1 HG03486.hp2 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0026 a0002c0004t0001 a0002c0003t0026 a0002c0004t0001	a0002c0003t0026g0106 a0002c0004t0001g0163 a0002c0003t0026g0106 a0002c0004t0001g0163	2	163	0.0123	-111	c.385 others(19): Show c.385+41881_385+41991del	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12			chr7	TogoVar
CSNK1D_chr17_82237667_82278700	82260702	CTGATGTG others(104): Show CTGATGTGACTGATGGTGTACTGACTGACGGTGTACCGACTGATGTGACT GATGGTATACTGACTGATGTGACTGATGGTGTACTGAGTGATGAGACTGA TGGTCTACTGAG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02258.hp2 others(5): Show HG01167.hp2 HG01169.hp2 HG02258.hp2 HG02647.hp1 HG02895.hp1 HG02896.hp1 HG03041.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0194 a0001c0002t0003g0195 others(1): Show a0001c0002t0003g0006 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0196	8	318	0.0252	-111	c.187 others(17): Show c.187+4873_187+4983del	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	2/8			chr17	TogoVar
CST9L_chr20_23559732_23573484	23560987	CCTTCCTT others(104): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCC TTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTT CTTTCCTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA19087.hp1 NA18981.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0054 a0002c0002t0001g0001 a0002c0002t0001g0054	2	389	0.0051	-111	c.38 others(11): Show c.3850_*3960del	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3744		chr20	TogoVar
CST9L_chr20_23559732_23573484	23560991	CCTTCCTT others(104): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT CCTTCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG04115.hp2 NA18955.hp2 HG01346.hp2 HG04115.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	3	387	0.0078	-111	c.38 others(11): Show c.3846_*3956del	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3740		chr20	TogoVar
CTBP1_chr4_1206445_1254130	1240486	ACCGGGTC others(104): Show ACCGGGTCCCTCGTCGGAACCGCGTGGGGGACTCCCGGGTGCTGGGTGAG TGGGAACCGGGTCCCTCGTCGGAACCGCGTGGGGGACTCCCGGGTGCTGG GTGAGTGGGAAC	A A	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	420	0.0024	-111	c.7+7 others(11): Show c.7+728_7+838del	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	2/9			chr4	TogoVar
CYP46A1_chr14_99679298_99732301	99708202	GTGCTGCC others(104): Show GTGCTGCCACCAGCGCCTGCCACTGAGAGGGCCTGAGGAGAGGCCTGCCC CACTTGCCGACACTGGCCCCCACATGCATCATCCACGGGCCTGAGGAATG GTCTACCATGAC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	372	0.0027	-111	c.693 others(15): Show c.693+605_693+715del	CYP46A1	ENSG00000036530.9	transcript	ENST00000261835.8	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
DACT2_chr6_168301904_168324777	168317956	GCATCTCG others(104): Show GCATCTCGGCAGCACCTCCCTTCCCATCACATGTGTGTAACACGTCTGTG GCTGTCGTGTGCTGAGCTGAGGTCACGCAGAAGCTGCGATTGTGTCTGGT GCAAACACACAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG01123.hp1 others(9): Show HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01346.hp1 HG01361.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02886.hp1 HG03490.hp2 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0011 a0002c0003 others(1): Show a0001c0001 a0001c0011 a0002c0003 a0005c0007	a0001c0001t0002 a0001c0011t0002 a0002c0003t0003 others(1): Show a0001c0001t0002 a0001c0011t0002 a0002c0003t0003 a0005c0007t0004	a0001c0001t0002g0003 a0001c0001t0002g0083 a0001c0011t0002g0084 others(3): Show a0001c0001t0002g0003 a0001c0001t0002g0083 a0001c0011t0002g0084 a0002c0003t0003g0081 a0005c0007t0004g0080 a0005c0007t0004g0082	12	474	0.0253	-111	c.246 others(17): Show c.246+1321_246+1431del	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DBNDD1_chr16_89999871_90024456	90004417	CACGTGGG others(104): Show CACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTTT ACGTGCACGTGGGGTGGGACTTCTGTAACTCCCTCCCCTGGCCCAGGCCA CCTTTACGTGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0139 a0001c0001t0005g0139	1	406	0.0025	-111	c.18 others(11): Show c.1807_*1917del	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		453		chr16	TogoVar
DEFB1_chr8_6865592_6882936	6882799	CTGACCCT others(104): Show CTGACCCTGGATGGAAGGCGCTGGATTTCTGACCCTGGATGGAAGGCGCT GGATTTCTGGCCCTGGATGGAAGGAGCTGGATTTCTGGTCCTGGATGGAA GGAGCTGGATTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	476	0.0021	-111	c.-50 others(11): Show c.-5053_-4943del	DEFB1	ENSG00000164825.4	transcript	ENST00000297439.4	protein_coding		4864		chr8	TogoVar
DEGS1_chr1_224178240_224198441	224196796	TATATGCT others(104): Show TATATGCTATAAGCAGTACTATTAATATCTTCATTTTGTAGATGACAGAA AAGGCTTAGAGAGATTAAGTAACTGGCCGAAGGTCACACTTAGTAAACTG CAGAAACTGAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	424	0.0024	-111	c.43 others(11): Show c.4319_*4429del	DEGS1	ENSG00000143753.14	transcript	ENST00000323699.9	protein_coding		3356		chr1	TogoVar
DGKB_chr7_14140049_14907751	14211286	ACTATGTG others(104): Show ACTATGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTG TGATTTTACTCTCATGTTTTGTGATATTTACTCTCGTGTTTTGTGATTTT ACTCTCATGTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02145.hp1 HG02258.hp2 HG00621.hp1 HG02145.hp1 HG02258.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0003t0036 a0002c0005t0011 a0001c0001t0001 a0001c0003t0036 a0002c0005t0011	a0001c0001t0001g0024 a0001c0003t0036g0050 a0002c0005t0011g0062 a0001c0001t0001g0024 a0001c0003t0036g0050 a0002c0005t0011g0062	3	117	0.0256	-111	c.212 others(21): Show c.2123-33246_2123-33136del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar

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