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
AP2A2_chr11_920870_1017240	980331	C C	CTGCCCGG others(356): Show CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	268	0.0037	363	c.604 others(378): Show c.604-802_604-801insCTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACA GGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTG TCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAG GGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGT CCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	980364	C C	CTGCCCGG others(356): Show CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	268	0.0037	363	c.604 others(378): Show c.604-802_604-801insCTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACA GGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTG TCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAG GCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGT CCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG GTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	980564	G G	GCCCGGTG others(356): Show GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGC CCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGG AGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCC CGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGA GCGGTGACAGGCTA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02486.hp1 HG01106.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0115 a0001c0001t0001g0058 a0001c0001t0001g0115	2	268	0.0075	363	c.604 others(378): Show c.604-626_604-625insCGTGTCCTGGAGCGGTGACAGGGTGCCCGG TGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCG GTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGT GCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGG TGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTG CCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGT GACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGC CGTGTCCTGGAGCGGTGACAGGCTACCCGGTGC	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP4E1_chr15_50903683_51010895	50930264	A A	ACCATGTT others(356): Show ACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACTG GCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG CCGATTTTGGGGACTTATAATGTTTAGTCTTGGCTGTGCTCTTCTACCCA GAACAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCT CTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACC TCTACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTA GAGACGGGGTTTCT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18960.hp2 NA18964.hp1 others(2): Show NA18941.hp1 NA18960.hp2 NA18964.hp1 NA19058.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0283 a0001c0001t0001g0284 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0326	5	392	0.0128	363	c.703 others(378): Show c.703-519_703-518insAAACTCCTGACCTCAGATGATCCACTGGCT CGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCG ATTTTGGGGACTTATAATGTTTAGTCTTGGCTGTGCTCTTCTACCCAGAA CAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCTT GTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTCT ACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAG ACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50930264	A A	ACCATGTT others(356): Show ACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACTG GCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG CCGATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCA GAACAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCT CTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACC TCTACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTA GAGACGGGGTTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(128): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18962.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19007.hp2 NA19030.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp1 NA19075.hp1 NA19081.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0010 a0011	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0004c0005 a0010c0014 a0011c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 a0001c0001t0026 a0001c0001t0027 a0002c0002t0002 a0002c0002t0024 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0010 a0002c0003t0014 a0004c0005t0001 a0010c0014t0001 a0011c0009t0003	a0001c0001t0001g0003 a0001c0001t0001g0195 a0001c0001t0001g0196 others(127): Show a0001c0001t0001g0003 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0325 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0003g0328 a0001c0001t0004g0359 a0001c0001t0004g0362 a0001c0001t0004g0364 a0001c0001t0004g0378 a0001c0001t0004g0384 a0001c0001t0004g0388 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0322 a0001c0001t0005g0330 a0001c0001t0005g0334 a0001c0001t0005g0341 a0001c0001t0008g0221 a0001c0001t0019g0215 a0001c0001t0026g0294 a0001c0001t0027g0224 a0002c0002t0002g0014 a0002c0002t0002g0036 a0002c0002t0002g0045 a0002c0002t0002g0048 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0080 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0109 a0002c0002t0002g0121 a0002c0002t0002g0124 a0002c0002t0024g0047 a0002c0003t0002g0123 a0002c0003t0003g0030 a0002c0003t0003g0141 a0002c0003t0003g0158 a0002c0003t0003g0159 a0002c0003t0003g0160 a0002c0003t0003g0162 a0002c0003t0003g0163 a0002c0003t0003g0165 a0002c0003t0003g0168 a0002c0003t0003g0169 a0002c0003t0003g0174 a0002c0003t0003g0178 a0002c0003t0003g0179 a0002c0003t0003g0183 a0002c0003t0003g0193 a0002c0003t0006g0187 a0002c0003t0006g0190 a0002c0003t0006g0192 a0002c0003t0010g0032 a0002c0003t0010g0033 a0002c0003t0010g0034 a0002c0003t0014g0017 a0002c0003t0014g0018 a0004c0005t0001g0238 a0004c0005t0001g0239 a0010c0014t0001g0231 a0011c0009t0003g0161	131	392	0.3342	363	c.703 others(378): Show c.703-519_703-518insAAACTCCTGACCTCAGATGATCCACTGGCT CGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCG ATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCAGAA CAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCTT GTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTCT ACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAG ACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50930264	A A	ACCATGTT others(356): Show ACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACTG GCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG CCGATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCA GAACAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCT CTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACC TCTGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTA GAGACGGGGTTTCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	392	0.0026	363	c.703 others(378): Show c.703-519_703-518insAAACTCCTGACCTCAGATGATCCACTGGCT CGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCG ATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCAGAA CAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCTT GTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTCT GCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAG ACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
ATP13A3_chr3_194397677_194492002	194421145	A A	AGTTTATA others(356): Show AGTTTATATATATATAGTTTATATATATATACTATATATATAGTTTATAT ATATACTATATATAGTATATATATATACTATATATATAGTTTATATATAT ATACTATATATAGTATATATATACTATATATATAGTATATATATATACTA TATATATAGTTTATATATATATACTATATATATAGTTTATATATATATAA ACTATATATATAGTTTATATATATATACTATATATATAGTGTATATATAT ATATACTATATATATAGTGTATATATATATATACTATATATATAGTTTAT ATATAGTTTATATATATATATACTATATATATAGTTTATATATATATATA CACTATATATATAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	1	304	0.0033	363	c.331 others(382): Show c.3314-1179_3314-1178insCTATATATATAGTGTATATATATATA TAAACTATATATATAGTATATATATATATAAACTATATATAAACTATATA TATAGTATATATATATATACACTATATATATAGTATATATATATATACAC TATATATATAGTATATATATATAAACTATATATATAGTTTATATATATAT AAACTATATATATAGTATATATATATAAACTATATATATAGTATATATAT ATACTATATATATAGTATATATATACTATATATAGTATATATATATAAAC TATATATATAGTATATATATATACTATATATAGTATATATATAAACTATA TATATAGTATATATATATAAACTATATATATATAAAC	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
AXDND1_chr1_179360971_179559735	179522820	A A	AATATCCT others(356): Show AATATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0310 a0004c0005t0001g0310	1	356	0.0028	363	c.249 others(382): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATATATATATATATATATCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522823	A A	ATCCTAAT others(356): Show ATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCC ACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATA TATATATATATATC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0186 a0002c0023t0001g0186	1	356	0.0028	363	c.249 others(382): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATATATATATCTCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
BABAM2_chr2_27885729_28343901	27910319	T T	TAGAAAGC others(356): Show TAGAAAGCATCAGAGAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGG CTGAGCCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02922.hp1 HG00738.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0037 a0001c0001t0002g0038	2	158	0.0127	363	c.128 others(382): Show c.128+15654_128+15655insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGG GAGGCTGAGCCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAAAGCATCAGAGAAACA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS9_chr7_33124564_33611069	33155705	A A	AAGAAATA others(356): Show AAGAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	268	0.0037	363	c.328 others(376): Show c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGAAATATTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
C2CD4C_chr19_400445_414147	404196	G G	GGAACGGG others(356): Show GGAACGGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCC CTGAGGGGTGTGTGGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGGGGG GGGATGGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCC TGAGGGGTCTGAGGGGGTACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGA ACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGA GGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGA TGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAG GGGTCTGAGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0067 a0001c0001t0045g0067	1	322	0.0031	363	c.28 others(374): Show c.2899_*2900insACCCCCTCAGACCCCTCAGGGCAGGACCCCATCC CCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCA GGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCC CCCTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAAG GCAGGACCCCGTACCCCCTCAGACCCCTCAGGGCAGGACCCCGTACCCCC TCAGACCCCTCAGGGCAGGACCCCCATCCCCCCCCCACACCCCTCAGGGC AGGACCCCATCCCCCCCACACACCCCTCAGGGCAGGACCCCATCCCCCCT CCACACCCCTCAGGGCAGGACCCCCGTTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1248		chr19	TogoVar
C2CD4C_chr19_400445_414147	404678	C C	CGGGGTCC others(356): Show CGGGGTCCTGTCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAG GGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGA CGGGGTCCTGTCCTGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGA GGGGTGTGGGGGGAAACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGAC GGGGTCCTGTCCTGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAG GGGTGTGGAGGGGGGACGGGGTCCTGTCCTGAGGGGTGTGGGGGGGACGG GGTCCTGCCCTGAGGGGTGTGAGGGGGGATGGGGTCCTGCCCTGAGGGGT GTGGAGGGGGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0131 a0001c0002t0131	a0001c0002t0131g0140 a0001c0002t0131g0140	1	322	0.0031	363	c.24 others(374): Show c.2417_*2418insCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCC ATCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTC AGGACAGGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTTC CCCCCTCCACACCCCTCAGGACAGGACCCCGTCCCCCCCTCACACCCCTC AGGGCAGGACCCCGTTTCCCCCCACACCCCTCAGGGCAGGACCCCGTTCC CCCCTCCACACCCCTCAGGACAGGACCCCGTCCCCCCTCCACACCCCTCA GGGCAGGACCCCGTTCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCC CCCCTCCACACCCCTCAGGACAGGACCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		766		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1191190	C C	CTCTGACC others(356): Show CTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGG TTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGGCACACTCA GGGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACAC TTGGGGTCTCTGACCCAGTAGGCTGGCCTGGCTGTGTGGCCTCAGGCACA CTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCAC ACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGG CACACTCAGGGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTC AGGCACACTCGGGG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0003 a0005c0023t0003	a0005c0023t0003g0045 a0005c0023t0003g0045	1	338	0.0030	363	c.300 others(380): Show c.300-3779_300-3778insGACCCAGCAGGCTGGCCTGGCTGTGTGG CCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTG TGGCCTCAGGCACACTCAGGGTTTTGGTGACCCAGCAGGCTGGCCTGGCT GTGTGGCCTCAGGCACACTTGGGGTCTCTGACCCAGTAGGCTGGCCTGGC TGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGG CTGTGTGGCCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGGCC TGGTTGTGTGGCCTCAGGCACACTCAGGGTTTTGGTGACCCAGCAGGCTG GCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC63_chr12_110841987_110912535	110905955	T T	TATATAAT others(356): Show TATATAATATATATTATATAAAATATATATTATATTATATATAATATATA TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATAAAATATATATTATATTATA TATAATATATATTATATAAAATATATATTATATTATATAATATATATTTT ATAAAATATATATTATATTATATATAATATATATTTTATAAAATATATAT TATATTATATAATATATATTATATAAAATATATATTATATTATATATAAT ATATATTATATAAAATATATATTATATTATATAATATATATTATATAAAA TATATATTATATTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	288	0.0035	363	c.154 others(382): Show c.1546+1164_1546+1165insATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTTTATAAAATATATATTATATTATATATAA TATATATTTTATAAAATATATATTATATTATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATAATATATATTATATAAAATATATATTATATTA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11			chr12	TogoVar
CCN4_chr8_133186039_133236690	133213900	C C	CTATACAC others(356): Show CTATACACTATATATAGTAGTTAAATATACTATACACTATATATAGTAGT TATATATACTATATATACACTATATATAGTAGTTATATATACTATATATA CACTATATATAGTATATATACTATATATAACTATATATAGTAGTTATATA TAGTATATATACACTATATATAGTATATATACACTATATATAGTAGTTAT ATATACTATATATACACTATATATAGTAGTTATACATACTATATATACAC TATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTATA CATACTATATATACACTATATATAGTAGTTATACATACACTATATAGTAG TTATATATACTACA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19063.hp2 NA18966.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0350 a0001c0001t0001g0351	2	396	0.0051	363	c.349 others(378): Show c.349+779_349+780insAATATACTATACACTATATATAGTAGTTAT ATATACTATATATACACTATATATAGTAGTTATATATACTATATATACAC TATATATAGTATATATACTATATATAACTATATATAGTAGTTATATATAG TATATATACACTATATATAGTATATATACACTATATATAGTAGTTATATA TACTATATATACACTATATATAGTAGTTATACATACTATATATACACTAT ATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTATACAT ACTATATATACACTATATATAGTAGTTATACATACACTATATAGTAGTTA TATATACTACATATACACTATATATAGTAGTTA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CD200_chr3_112328156_112367812	112346119	G G	GCCAAAAG others(356): Show GCCAAAAGAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTGTTACCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	408	0.0025	363	c.421 others(378): Show c.421+849_421+850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACTGTGTTACCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCAAAAGAAATTTCTTTT	CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
CEP19_chr3_196701277_196717250	196703420	A A	AGCCCCAG others(356): Show AGCCCCAGGCAGCCATAATCAATTCCCATCCCCAGCCCCAGGCAGCCATA ATCAATTCCCATCCGCAGCCCCAGGCAGCCATAATCAATTCCCATCCCCA GCCCCAGGCAGCCATAATCAATTCCCATCCGCAGCCCCAGGCAGCCATAA TCAATTCCCATCCCCCGCCCCAGGCAGCCATAATCAATTCCCATCCCCAG CCCCAGGCAGCCATAATCAATTCCCATCCGCAGCCCCAGGCAGCCATAAT CAATTCCCATCCCCCGCCCCAGGCAGCCATAATCAATTCCCATCCCCAGC CCCAGGCAGCCATAATCAATTCTCATCCCCAGCCCCAGGCAGCCATAATC AATTCCCATCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	432	0.0023	363	c.41 others(374): Show c.4130_*4131insGGGGGATGGGAATTGATTATGGCTGCCTGGGGCT GGGGATGAGAATTGATTATGGCTGCCTGGGGCTGGGGATGGGAATTGATT ATGGCTGCCTGGGGCGGGGGATGGGAATTGATTATGGCTGCCTGGGGCTG CGGATGGGAATTGATTATGGCTGCCTGGGGCTGGGGATGGGAATTGATTA TGGCTGCCTGGGGCGGGGGATGGGAATTGATTATGGCTGCCTGGGGCTGC GGATGGGAATTGATTATGGCTGCCTGGGGCTGGGGATGGGAATTGATTAT GGCTGCCTGGGGCTGCGGATGGGAATTGATTATGGCTGCCTGGGGCTGGG GATGGGAATTGATTATGGCTGCCTGGGGC	CEP19	ENSG00000174007.9	transcript	ENST00000409690.5	protein_coding		2856		chr3	TogoVar
CFAP46_chr10_132803392_132947570	132888656	A A	ACCCCTGC others(356): Show ACCCCTGCCACCTTCACCCCTGCCACCTGCACCCCTGCCGCCTGCACCCC TGCCACCTTCACCCCTGCAGCCTGCACCCCTGCCGCCTGCACCCCTGCCA CCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCACCTGCCACCTTCAC CCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCAC CTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGCACCCCGCCACCTTCAC CCCTGCCACCTGCACCCCGCCACCTTCACCCCTGCCGCCTGCACCTGCCA CCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCAC CTGCCACCTTCACC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0023 a0023	a0023c0099 a0023c0099	a0023c0099t0002 a0023c0099t0002	a0023c0099t0002g0017 a0023c0099t0002g0017	1	246	0.0041	363	c.330 others(382): Show c.3305-2698_3305-2697insGGTGAAGGTGGCAGGTGCAGGCGGCA GGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAG GCGGCAGGGGTGAAGGTGGCGGGGTGCAGGTGGCAGGGGTGAAGGTGGCG GGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAGGTGCA GGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCA GGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGC AGGCGGCAGGGGTGCAGGCTGCAGGGGTGAAGGTGGCAGGGGTGCAGGCG GCAGGGGTGCAGGTGGCAGGGGTGAAGGTGGCAGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914028	C C	CCCTGAGG others(356): Show CCCTGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02080.hp2 NA19007.hp2 HG00280.hp2 HG02080.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0023 a0002c0002 a0002c0023	a0002c0002t0001 a0002c0023t0001 a0002c0002t0001 a0002c0023t0001	a0002c0002t0001g0199 a0002c0002t0001g0215 a0002c0023t0001g0151 a0002c0002t0001g0199 a0002c0002t0001g0215 a0002c0023t0001g0151	3	246	0.0122	363	c.212 others(380): Show c.2121-771_2121-770insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914127	C C	CCCCGAGG others(356): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	246	0.0041	363	c.212 others(380): Show c.2121-870_2121-869insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CLASRP_chr19_45034045_45075956	45038561	T T	TAAAAAAT others(356): Show TAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	364	0.0028	363	c.-57 others(372): Show c.-577_-576insAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAA	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding		483		chr19	TogoVar
CNOT1_chr16_58514951_58634826	58586389	G G	GGAGGGCA others(356): Show GGAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGG GAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGG GAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGG AGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGG ACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGAT GGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGG GGAAGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAG GGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	308	0.0033	363	c.637 others(378): Show c.637+155_637+156insTCCCCTCCCCTCCCCTCCCCTTCCCTTCCC TTCCCTCCCCTTCCCTCCCCTTCCCTTCCCTTCCCCTTCCCCTCCCCTCC CCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCC CTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCTCCCCTCCCCC TCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCT TCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTC CCCTTCCCCTCCCCCTCCCCTCCCCCTGCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(356): Show GGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGG GAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGG GAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGA CGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGAGGGGAGGGGAA GGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGG GAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGAAGGG GAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAAGG GGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02970.hp1 HG03540.hp1 others(1): Show HG01192.hp1 HG02970.hp1 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0280 a0001c0004t0001g0284 a0001c0004t0001g0285 others(1): Show a0001c0004t0001g0280 a0001c0004t0001g0284 a0001c0004t0001g0285 a0001c0004t0001g0289	4	308	0.0130	363	c.637 others(378): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGT CCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTC CCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(356): Show GGAGGGGAAGGGGAGGGCAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGG AGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGG AGGGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGG AAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGA GGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGAAAGGGAAGGG GAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0136 a0001c0003t0002g0136	1	308	0.0033	363	c.637 others(378): Show c.637+145_637+146insTCCCCTCCCCTTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTTTCCTTC CCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTTCCCC TCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTT CCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCCCTCCCCTCCCCCTCCCCC CTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTT CCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTC CCCCTCCCCTCCCCCTGCCCTCCCCTTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(356): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGG AGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGA GGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAG GGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGG GGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGG GGAGGGGAAGGGGA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	308	0.0033	363	c.637 others(378): Show c.637+145_637+146insTCCCCTTCCCCTCCCCTCCCCTCCCCTTCC CTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTC CCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCC CTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCC TCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCC TCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCT GCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTC CCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CROCC2_chr2_240901336_240998311	240923662	T T	TCCCCCAC others(356): Show TCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCC GGCCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTAA CCCGGCCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACT GACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACAC TGACCCAGCCCCCACACTAACCCAGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCA CACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCC CACACTAACCCAGC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0271 a0001c0001t0004g0271	1	350	0.0029	363	c.488 others(380): Show c.488+1021_488+1022insCACACTAACCCGGCCCCCACACTGACCC GGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCACACTGAC CCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACT GACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACAC TAACCCAGCCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCA CACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCACACTAACCCAGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	4532156	C C	CACTCCAG others(356): Show CACTCCAGAAAAGAAATCCTGCACCTCCATTCAGTCACTCCGGAAGAGAA ATCCTGCACCCCCATTCACAGTCACTCCGGAAGAGAAATCCTGCACCCCC ATTCACAGTCACTCCAGAAAAGAAATCCTGCAAGCCCATTCACACTCACT CCAGAAAAGAAATCCTGCACCTCCATTCAGTCACTCCGAAAGAGAAATCC TGCACCCCCATTCAGTCACTCCGGAAGAGAAATCCTGCACCCCCATTCAG TCACTCCGGAAAATAAATCCCGCACCCTCATTCACAGTCACTCTGGAAGA GAAATCCTGCACCGCCATTCACAGTCACTCCGGAAGAGAAATCCTGCAAG CCCATTCACAGTCA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19240.hp2 HG03516.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0045 a0004c0014 a0001c0045 a0004c0014	a0001c0045t0012 a0004c0014t0055 a0001c0045t0012 a0004c0014t0055	a0001c0045t0012g0010 a0004c0014t0055g0056 a0001c0045t0012g0010 a0004c0014t0055g0056	2	126	0.0159	363	c.302 others(384): Show c.302+105185_302+105186insTGACTGTGAATGGGCTTGCAGGAT TTCTCTTCCGGAGTGACTGTGAATGGCGGTGCAGGATTTCTCTTCCAGAG TGACTGTGAATGAGGGTGCGGGATTTATTTTCCGGAGTGACTGAATGGGG GTGCAGGATTTCTCTTCCGGAGTGACTGAATGGGGGTGCAGGATTTCTCT TTCGGAGTGACTGAATGGAGGTGCAGGATTTCTTTTCTGGAGTGAGTGTG AATGGGCTTGCAGGATTTCTTTTCTGGAGTGACTGTGAATGGGGGTGCAG GATTTCTCTTCCGGAGTGACTGTGAATGGGGGTGCAGGATTTCTCTTCCG GAGTGACTGAATGGAGGTGCAGGATTTCTTTTCTGGAGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CUL4A_chr13_113204613_113272108	113232064	A A	ACTGCTGC others(356): Show ACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCC ACCACCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA CTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	396	0.0025	363	c.513 others(380): Show c.513-1110_513-1109insCTGCCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGCTG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DAAM2_chr6_39787376_39909869	39845366	A A	ATACCATA others(356): Show ATACCATATCACACCACACATGCACATATACTGCCTATACACATCACACA CACCTACCCCACCACACACGCCACACACATACCACACATACACACCACAC ATACACACACCATACCACATATACACACACCACACATATACAACCTAAAC ATACACACACCACACACACCACTTATACATGCATGCACACATCACATACA CACCACACATACCACACACACCACACATCACATATATACACCACACCTCA CATACATATACACATACACCATATGTGTATGTACACCAACTATGTGCACA CACCACATATAGTCATACCCTACCTACACACACACCACACATACCACACA TATACCCACCACAC	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18956.hp2 NA19086.hp1 HG02083.hp2 NA18956.hp2 NA19086.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0037 a0001c0004t0004g0046 a0001c0004t0004g0051 a0001c0004t0004g0037 a0001c0004t0004g0046 a0001c0004t0004g0051	3	300	0.0100	363	c.-56 others(382): Show c.-56-10881_-56-10880insTACCATATCACACCACACATGCACAT ATACTGCCTATACACATCACACACACCTACCCCACCACACACGCCACACA CATACCACACATACACACCACACATACACACACCATACCACATATACACA CACCACACATATACAACCTAAACATACACACACCACACACACCACTTATA CATGCATGCACACATCACATACACACCACACATACCACACACACCACACA TCACATATATACACCACACCTCACATACATATACACATACACCATATGTG TATGTACACCAACTATGTGCACACACCACATATAGTCATACCCTACCTAC ACACACACCACACATACCACACATATACCCACCACAC	DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding	1/24			chr6	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(356): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	367	0.0027	363	c.-42 others(374): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGG GTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGA GTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397708	G G	GGTGAGGG others(356): Show GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAG TCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	367	0.0027	363	c.-42 others(374): Show c.-4256_-4255insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG GGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4176		chr16	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(356): Show GACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG GCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGC CAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAAGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGGCCCAGCGAGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0328 a0004c0017t0001g0328	1	358	0.0028	363	c.236 others(382): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG AGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGA GCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DLGAP2_chr8_732628_1713476	1508511	T T	TGCAAACC others(356): Show TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCAC CACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCCCTGCA AACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCACC CCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCT CACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCCCT GCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACC ACCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACC CCTCACCACCCCCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	363	c.172 others(380): Show c.172+7096_172+7097insCCCTGCAAACGCCCACCACCCCCCACCC CTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCC CTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCA CCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCA CCCCTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCAC CCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCC TCACCACCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCC CCACCCCTCACCACCCCCCGCAAACCCCCGCCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJC4_chr11_64225548_64239281	64237081	C C	CGGAGAGA others(356): Show CGGAGAGAGGAGGAGAGAAGAGAGAGAGATAGAGAGAGAGAGAGAGAGGG AGGGAGGGAGGTGAGGGAGGGAGGGAGGGGGAGGTAGGGAGGGATGGGAG GGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGATGGAGGAGAGA GAGATGAGAGAGAGAAGAGAGAGAGAGGGAGAGAGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGGAGGGAGGATGGAGGG AGGGGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGGAG GGAGGGGAGGGAGGGGGAGGGAGGGAGTGGAGGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	338	0.0030	363	c.28 others(374): Show c.2897_*2898insGGAGAGAGGAGGAGAGAAGAGAGAGAGATAGAGA GAGAGAGAGAGAGGGAGGGAGGGAGGTGAGGGAGGGAGGGAGGGGGAGGT AGGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA GAGATGGAGGAGAGAGAGATGAGAGAGAGAAGAGAGAGAGAGGGAGAGAG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGG AGGGAGGATGGAGGGAGGGGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGGAGGGAGGGGAGGGAGGGGGAGGGAGGGAGTGGAGGGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAG	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2801		chr11	TogoVar
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(356): Show CCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCACCACC TCCACCACCACCAGCATCTTCACCATCACCACCACCACCATCACCACCAC CTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCA CCACCACCATCACCACCACCACCACCACCTCCTCCACCATCACCACCTCC TTCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCAC CACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCACCTCCA CCATCACCACCACCTCCACCATCACCACCACCACCTCCACCACCATCACC ACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0051 a0003c0004t0001g0051	1	256	0.0039	363	c.323 others(382): Show c.3234+1480_3234+1481insTCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCAGCATCTTCACCATCACCACCACCACCATCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCA CCACCACCACCATCACCACCACCACCACCACCTCCTCCACCATCACCACC TCCTTCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCACCT CCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCACCATC ACCACCACCTCCACCATCACCACCACCTCCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619124	C C	CCCCCCGC others(356): Show CCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCTCCCTGCTCCCCTCCCTGCAGCTCC ATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCTCCCTGCTCCCTCCCTGCAGCCC CCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCTCCCTGCTCCCTC CCTGCAGCCCCCTG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03834.hp1 HG01516.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0072 a0001c0001t0001g0073	2	250	0.0080	363	c.-10 others(382): Show c.-107+5410_-107+5411insGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCTCCCTGC TCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCTCCCT GCTCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCTCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619210	C C	CCCTGCCC others(356): Show CCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGC AGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTC CCCTCCCTGCAGCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	250	0.0040	363	c.-10 others(382): Show c.-107+5493_-107+5494insTGCCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634578	C C	CCCCTTCC others(356): Show CCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCC CTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp2 HG02258.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0247 a0001c0001t0001g0046 a0001c0001t0001g0247	2	250	0.0080	363	c.105 others(380): Show c.105-1304_105-1303insCCTTTCCCTTCCTTCCCTTTCCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(356): Show ATATATATACTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATACTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTATATA TATAGTATATATATAGTATATATAGTATATATGTATATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TAGTATATATATAG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18970.hp1 NA18992.hp2 others(2): Show NA18968.hp2 NA18970.hp1 NA18992.hp2 NA19065.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0001 a0001c0002t0004 a0001c0002t0010 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0010 a0001c0013t0004	a0001c0002t0001g0100 a0001c0002t0004g0097 a0001c0002t0004g0098 others(2): Show a0001c0002t0001g0100 a0001c0002t0004g0097 a0001c0002t0004g0098 a0001c0002t0010g0095 a0001c0013t0004g0099	5	316	0.0158	363	c.355 others(382): Show c.355-25620_355-25619insCTATATATATAGTATATATATATAGT ATATATATAGTATATATATAGTATATATATACTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATATAGTGTATATATATAGTATATATATATAGTGTA TATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGTA TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(356): Show ATATATATACTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTATATA TATAGTATATATATAGTATATATAGTATATATGTATATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TAGTATATATATAG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	316	0.0032	363	c.355 others(382): Show c.355-25620_355-25619insCTATATATATAGTATATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATATAGTGTATATATATAGTATATATATATAGTGTA TATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGTA TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(356): Show ATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTATATA TATAGTATATATATAGTATATATAGTATATATGTATATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TAGTATATATATAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	316	0.0032	363	c.355 others(382): Show c.355-25620_355-25619insGTATATATATATAGTATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATATAGTGTATATATATAGTATATATATATAGTGTA TATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGTA TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(356): Show ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATATAGTATATATATAG TATATATATAGTATATATATATAGTATATATAGTATATATATATAGTGTA TATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGTA TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATAGTATATATATA TAGTATATATATAG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	316	0.0032	363	c.355 others(382): Show c.355-25607_355-25606insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT ATAGTATATATATAGTATATATATAGTATATATATATAGTATATATAGTA TATATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATA TATAGTATATATGTATATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
EXD3_chr9_137301896_137428162	137355710	A A	AGGAAGGA others(356): Show AGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGG AGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGG AGGAAGGAGGAAGGAGGATGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGA AGGAGGAAGGAGAAAGGGAGGAAGGAGGAGGAGGAAGGAGGAAGGAGAAA GGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG AAAGGGAGGAAGGC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	82	0.0122	363	c.757 others(378): Show c.757+557_757+558insGCCTTCCTCCCTTTCTCCTTCCTCCTTCCT CCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTT CCTCCTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTC CTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTC CTTCCTCCTTTCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCC CTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCC CTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXOC3L4_chr14_103089725_103115559	103109399	C C	CCCTCCCT others(356): Show CCCTCCCTTCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTC TCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCC CATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCC CTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTC CACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCG TGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCA CCCTGTCCCCATGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0095 a0003c0032t0001g0095	1	404	0.0025	363	c.197 others(380): Show c.1977-631_1977-630insCTCCCTTCCTCTCCACCCTGTCCCCATG TCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACC CTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTC TCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCT CCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCT GTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTC CCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FDCSP_chr4_70221124_70240252	70227583	T T	TAAAAAGC others(356): Show TAAAAAGCTTTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTT CCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCAT AGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCT TCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTC ATGTCCTTCGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTA GATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATAT GTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18946.hp1 NA18941.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	450	0.0044	363	c.-1+ others(378): Show c.-1+1413_-1+1414insTCCTATTTCTCCGCATCCTCTCCAGCACCT GTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGAT ATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAG CATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTG TCTGTTCATGTCCTTCGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAAAAAAAAAAAAAAAAAAAAAAGCTTTGT	FDCSP	ENSG00000181617.6	transcript	ENST00000317987.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
FDCSP_chr4_70221124_70240252	70227583	T T	TAAAAAGC others(356): Show TAAAAAGCTTTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTT CCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCAT AGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCT TCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTC ATGTCCTTCGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTA GATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATAT GTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAAT AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(78): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp2 HG01123.hp1 HG01169.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02155.hp2 HG03453.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18974.hp1 NA18977.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19005.hp2 NA19006.hp1 NA19010.hp1 NA19054.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0018 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0002t0001g0003	81	450	0.1800	363	c.-1+ others(378): Show c.-1+1413_-1+1414insTCCTATTTCTCCGCATCCTCTCCAGCACCT GTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGAT ATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAG CATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTG TCTGTTCATGTCCTTCGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAAAAAAAAAAAAAAGCTTTGT	FDCSP	ENSG00000181617.6	transcript	ENST00000317987.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
FKBP2_chr11_64236095_64249132	64237081	C C	CGGAGAGA others(356): Show CGGAGAGAGGAGGAGAGAAGAGAGAGAGATAGAGAGAGAGAGAGAGAGGG AGGGAGGGAGGTGAGGGAGGGAGGGAGGGGGAGGTAGGGAGGGATGGGAG GGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGATGGAGGAGAGA GAGATGAGAGAGAGAAGAGAGAGAGAGGGAGAGAGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGGAGGGAGGATGGAGGG AGGGGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGGAG GGAGGGGAGGGAGGGGGAGGGAGGGAGTGGAGGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	363	c.-40 others(374): Show c.-4056_-4055insGGAGAGAGGAGGAGAGAAGAGAGAGAGATAGAGA GAGAGAGAGAGAGGGAGGGAGGGAGGTGAGGGAGGGAGGGAGGGGGAGGT AGGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA GAGATGGAGGAGAGAGAGATGAGAGAGAGAAGAGAGAGAGAGGGAGAGAG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGG AGGGAGGATGGAGGGAGGGGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGGAGGGAGGGGAGGGAGGGGGAGGGAGGGAGTGGAGGGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAG	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		4013		chr11	TogoVar
FOXP1_chr3_70949708_71588728	71435459	A A	AAGAAGGG others(356): Show AAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGAC GGAGGGAGGGTAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGG AAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAAGGAGGGACGGAGGG AGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAG GGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGG AGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAG GGACGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0095 a0001c0001t0050g0095	1	96	0.0104	363	c.-16 others(384): Show c.-168+57966_-168+57967insCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCC CTCCTTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCC GTCCCTTCTTCCCTCCCTCCGTCCCTTCTACCCTCCCTCCGTCCCTTCTT CCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241805364	T T	TTCCCTCC others(356): Show TTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CTCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGTCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCC ACCTTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCTCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGATG TCTGCAGGCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0022 a0002c0002t0002g0022	1	314	0.0032	363	c.11 others(374): Show c.1198_*1199insTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCTCCCTCAACCCAGGGACCTCCGCAGGCCACCCTC CCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGTCACCCTCCCTCCCCCCTCAACCCAG GGATGTCTGCAGGCCACCTTCCCTCCCTCCTCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACC CTCCCTCCTCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGATGTCTGCAGGCCACCC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1078		chr2	TogoVar

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