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
CSF2RA_chrX_1263814_1314935	1284704	T T	TCCCAGGC others(456): Show TCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCT TTCTGGGATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTG CAGAAATACACCACCATGCCAAGCTAATTTAAATATTTTTTTTTAATTTT ATAGAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTT TTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCT CCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGC CAAGCTAATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTAT GTTGCCAAGACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTTGAGATGGA GTCTTACTCTGTCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0125 a0002c0004t0005g0125	1	159	0.0063	463	c.77- others(478): Show c.77-1039_77-1038insCTGCAGCCTCAGCTTTCTGGGATCAAGTAT CCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCA TGCCAAGCTAATTTAAATATTTTTTTTTAATTTTATAGAGGAGATCTTGC TATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTTTTTGAGATG GAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCCAGCCTCCC AAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAATT TTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAGTT TTTGATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1284704	T T	TCCCAGGC others(456): Show TCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCT TTCTGGGATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTG CAGAAATACACCACCATGCCAAGCTAATTTAAATATTTTTTTTTTAATTT TATAGAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTT TTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCC TCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATG CCAAGCTAATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTA TGTTGCCAAGACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTGAGATGGA GTCTTACTCTGTCA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03540.hp2 HG02897.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0002 a0002c0006t0005 a0002c0003t0002 a0002c0006t0005	a0002c0003t0002g0145 a0002c0006t0005g0028 a0002c0003t0002g0145 a0002c0006t0005g0028	2	159	0.0126	463	c.77- others(478): Show c.77-1039_77-1038insCTGCAGCCTCAGCTTTCTGGGATCAAGTAT CCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCA TGCCAAGCTAATTTAAATATTTTTTTTTTAATTTTATAGAGGAGATCTTG CTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTTTTTGAGAT GGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCCAGCCTCC CAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAAT TTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAGT TTTTGATTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(456): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGGGGGAGG GGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGG AGGGGGAGAGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0109 a0001c0109	a0001c0109t0038 a0001c0109t0038	a0001c0109t0038g0013 a0001c0109t0038g0013	1	126	0.0079	463	c.416 others(484): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTC CCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCACATCCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CUL4A_chr13_113204613_113272108	113232110	C C	CCCACCAC others(456): Show CCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGC TGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTG CCACCACCACCTGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	396	0.0025	463	c.513 others(480): Show c.513-1041_513-1040insTGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACT GCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCTGCTG CCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCCACC ACCACCTGTCCACCACCATTACTGTCACCACTACC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(456): Show TGTGGGGGGGTGAGGGAGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGTGGGGGT GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGG GTGAGGGAGTCGGGGTGGGGGGTGGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGGGGGGTGGGGGTGGGGGGGGGGGTGAGGGAGTCGGGGGGGTGGGGG GGTGGGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGAGGGT CGGGGGGGGGGGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG GGGTGAGGGAGTTGGGGGGGTGGGGGTGGGGGGGTGAGGGGAGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	367	0.0027	463	c.-42 others(474): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGTGGGGGGGGGTGAGGGAGTCGGGGTGGGGGGTGGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGGGGGGTGGGGGTGGGGGGGGGGGTGAGGGAG TCGGGGGGGTGGGGGGGTGGGGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGTGGGGGGGAGGGTCGGGGGGGGGGGGGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGGGGTGAGGGAGTTGGGGGGGTGGGGGTGGGGGGGT GAGGGGAGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875320	C C	CCACCCCC others(456): Show CCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCGCACCCGCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCGACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCCACC CCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCG CACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCA CCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACC CCCACCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0207 a0005c0005t0002g0207	1	320	0.0031	463	c.39 others(474): Show c.3912_*3913insCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTG GGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGG GGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGGTGGGGGTGGGG GTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGT GGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGC GGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGG GTCGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGT GGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGG GGGTGCGGGTGGGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2422		chr20	TogoVar
DNM2_chr19_10713079_10836903	10758435	C C	CTCCTTCC others(456): Show CTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCC TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCC TTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCC TTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCTTCCTCCTTCCCTCCCTCCTTCCTTCCC TCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCTTC CTTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	278	0.0036	463	c.162 others(480): Show c.162-1300_162-1299insTTCCTTCCCTCCCTCCTTCCTTCCTTCC CTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCT CCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCC TTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCTCCTTC CCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCT TCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA14_chr9_77418079_77653322	77452609	A A	ATGGAAGT others(456): Show ATGGAAGTGTGTCAGTGGTGTGTGTGGAGGTATATGTGTGTGTGCTGTGC ATATGTGTATGTCTGTGGTGTGTATGTGTGTGTGGTGTGCTTATGTGTAT GTGTATGGTGTGTGTGTGGTGTGTGTATGTGTGTGGTGTATGTGTGTGGT GCATGTGTGTGGTTTGTGTCTGTGTGTGTGGCGTGTATGTGTATGTGTGT GGTGTGTTTGTGGTATGTGTGTATGTGTATGGTGTGTATGTGTATGTGTG TGGTGTGTCTGTGTGGTGTGTATGTGTGTGGTGTGTATGTGTGTGGTGTG TATGTGTGTGTGGTATGTGTGTACGTGTGGTGTGTATGTGTGTGGTGTGT GTGGTATGTGTGTGTTGTGTGGTGTGTGTGTATGTGTGTGGTGTGTGTGT AGTATCTGTGTATGTGTGGTGTGGTGTGTGGTATGTGTGTAGTGTGTTTA TGTATGTGTGGGGG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0063 a0001c0002t0012g0063	1	240	0.0042	463	c.310 others(482): Show c.310-18088_310-18087insCCCCCACACATACATAAACACACTAC ACACATACCACACACCACACCACACATACACAGATACTACACACACACCA CACACATACACACACACCACACAACACACACATACCACACACACCACACA CATACACACCACACGTACACACATACCACACACACATACACACCACACAC ATACACACCACACACATACACACCACACAGACACACCACACACATACACA TACACACCATACACATACACACATACCACAAACACACCACACACATACAC ATACACGCCACACACACAGACACAAACCACACACATGCACCACACACATA CACCACACACATACACACACCACACACACACCATACACATACACATAAGC ACACCACACACACATACACACCACAGACATACACATATGCACAGCACACA CACATATACCTCCACACACACCACTGACACACTTCCA	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GNA14_chr9_77418079_77653322	77452609	A A	ATGGAAGT others(456): Show ATGGAAGTGTGTCCGTGGTGTGTGTGGAGGTATATGTGTGTGTGCTGTGC ATATGTGTATGTCTGTGGTGTGTATGTGTGTGTGGTGTGCTTATGTGTAT GTGTATGGTGTGTGTGTGGTGTGTGTATGTGTGTGGTGTATGTGTGTGGT GCATGTGTGTGGTTTGTGTCTGTGTGTGTGGCGTGTATGTGTATGTGTGT GGTGTGTTTGTGGTATGTGTGTATGTGTATGGTGTGTATGTGTATGTGTG TGGTGTGTCTGTGTGGTGTGTATGTGTGTGGTGTGTATGTGTGTGGTGTG TATGTGTGTGTGGTATGTGTGTACGTGTGGTGTGTATGTGTGTACGTGTG GTGTGTATGTGTGTGGTGTGTGGTGTGTGTGTATGTGTGTGGTGTGTGTG TAGTATCTGTGTATGTGTGGTGTGGTGTGTGGTATGTGTGTAGTGTGTTT ATGTATGTGTGGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00621.hp2 others(63): Show HG00323.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02523.hp1 HG02602.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG04228.hp1 HG04228.hp2 NA18945.hp1 NA18945.hp2 NA18961.hp1 NA18968.hp1 NA18968.hp2 NA18977.hp2 NA18980.hp1 NA18986.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0016 a0005c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0003t0001 a0001c0003t0002 a0001c0005t0011 a0001c0011t0001 a0001c0016t0002 a0005c0019t0022	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 others(63): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0114 a0001c0001t0001g0162 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0222 a0001c0001t0003g0002 a0001c0001t0003g0013 a0001c0001t0003g0035 a0001c0001t0003g0040 a0001c0001t0003g0056 a0001c0001t0003g0060 a0001c0001t0003g0066 a0001c0001t0003g0072 a0001c0001t0003g0100 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0005g0174 a0001c0001t0005g0185 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0199 a0001c0001t0005g0205 a0001c0001t0005g0210 a0001c0001t0005g0217 a0001c0001t0005g0231 a0001c0001t0007g0189 a0001c0001t0007g0216 a0001c0001t0008g0177 a0001c0001t0011g0091 a0001c0001t0012g0036 a0001c0001t0014g0226 a0001c0001t0016g0057 a0001c0001t0017g0179 a0001c0001t0017g0227 a0001c0002t0001g0032 a0001c0002t0001g0044 a0001c0002t0001g0102 a0001c0002t0001g0142 a0001c0002t0002g0186 a0001c0002t0008g0182 a0001c0003t0001g0030 a0001c0003t0001g0039 a0001c0003t0001g0088 a0001c0003t0001g0117 a0001c0003t0002g0175 a0001c0003t0002g0178 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0207 a0001c0005t0011g0071 a0001c0011t0001g0134 a0001c0016t0002g0206 a0005c0019t0022g0240	66	240	0.2750	463	c.310 others(482): Show c.310-18088_310-18087insCCCCACACATACATAAACACACTACA CACATACCACACACCACACCACACATACACAGATACTACACACACACCAC ACACATACACACACACCACACACCACACACATACACACCACACGTACACA CATACACACCACACGTACACACATACCACACACACATACACACCACACAC ATACACACCACACACATACACACCACACAGACACACCACACACATACACA TACACACCATACACATACACACATACCACAAACACACCACACACATACAC ATACACGCCACACACACAGACACAAACCACACACATGCACCACACACATA CACCACACACATACACACACCACACACACACCATACACATACACATAAGC ACACCACACACACATACACACCACAGACATACACATATGCACAGCACACA CACATATACCTCCACACACACCACGGACACACTTCCA	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(456): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGG GGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGA ATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGG AGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGT TGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGG GGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGG AAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGG GGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTG TGGGGTGCGGTTGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0086 a0008c0013t0086	a0008c0013t0086g0138 a0008c0013t0086g0138	1	282	0.0036	463	c.684 others(476): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGG GGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGG AAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAG GGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGT GTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGG GGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTG CGGTTGGGGGAGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACAAA others(456): Show CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC ACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACA CGCAGACACACACACACACACACACACAGTAAATACATCCCGACAGGGAC AGACACACACACACAGACACACACACAGAGACACACACACAGTAAACACA TCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACA CAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACAC AGAGACACACACAA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	155	0.0065	463	c.488 others(478): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTGT GTGTCTCTGTGTGTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGT ATTTACTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG TCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCT CTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTT TGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAG CATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGT CCCTGTCGGGATGTATTTACTGTGTGTTTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	323698	G G	GTGTGTGT others(456): Show GTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCC TGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACG TTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTC AATCTCCTGGGCTCCTGGGTTCCGTTTGCCCTGTTCATAGAGATGGAATG AGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTTTG CCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGG ACGTGTGTGTGTGTGTGTGTGGCCGTCAATCTCCTGGGCTCCTGGGTTCC GTCTGCCCTGTTCTTAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCT CAGGGACGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0007 a0012c0014t0001g0007	1	155	0.0065	463	c.-49 others(474): Show c.-4912_-4911insTACACACGTCCCTGAGCTCACCACCTGGGGACGC CCTCATTCCATCTCTAAGAACAGGGCAGACGGAACCCAGGAGCCCAGGAG ATTGACGGCCACACACACACACACACACGTCCCTGAGCTCACCACCTGGG GACGCCCTCATTCCATCTCTATGAACAGGGCAAACGGAACCCAGGAGCCC AGGAGATTGACGGCTACACACACACACACACACACACACACACACACAAC GTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAG GGCAAACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACACACACA CACACACACACACACACACACACACACAAACGTCCCTGAGCTCACCACCT GGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAG CCCAGGAGATTGACGGCTACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4903		chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322345	A A	AATATATA others(456): Show AATATATATAGAATATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATACATGGAATATATGTATATGGA ATATATACATGGAATATATGTATATGGAATATATACATGGAATATATGTA TATGGAATATATACATGGAATATATATATGGAATATATACATGGAATATA TACATGGAATATATATATGGAATATATACATGGAATATACATATATGGAA TATATACATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	323	0.0031	463	c.-27 others(474): Show c.-2711_-2710insATATATATAGAATATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATGGAATATATATATGGAATATATACATGGA ATATATGTATATGGAATATATACATGGAATATATGTATATGGAATATATA CATGGAATATATGTATATGGAATATATACATGGAATATATATATGGAATA TATACATGGAATATATACATGGAATATATATATGGAATATATACATGGAA TATACATATATGGAATATATACATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2624		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322707	A A	ATATGTAT others(456): Show ATATGTATGGAATATATATATACGGAATATATATATAATATATGTATGGA ATATATATATACGGAATGTATATATAATATATATATATATGGAATATATA TATACGGAATGTATATATAATATATATATATGGAATATATATATACGGAA TGTATATATAATATATATACGGAATATATATATACGGAATGTATATATAA TATATATACGGAATATATATATACGGAATGTATATATAATATATATACGG AATATATATATACGGAATGTATATATAATATATATACGGAATATATATAT ACGGAATGTATATATAATATATATACGGAATATATATATACGGAATGTAT ATATAATATATATACGGAATATATATATACGGAATGTATATATAATATAT ATACGGAATATATATATACGGAATGTATATATAATATATATACGGAATAT ATATATACGGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02486.hp1 HG01106.hp2 HG02486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0086 a0001c0005t0013g0092 a0001c0005t0013g0086 a0001c0005t0013g0092	2	323	0.0062	463	c.-23 others(474): Show c.-2349_-2348insTATGTATGGAATATATATATACGGAATATATATA TAATATATGTATGGAATATATATATACGGAATGTATATATAATATATATA TATATGGAATATATATATACGGAATGTATATATAATATATATATATGGAA TATATATATACGGAATGTATATATAATATATATACGGAATATATATATAC GGAATGTATATATAATATATATACGGAATATATATATACGGAATGTATAT ATAATATATATACGGAATATATATATACGGAATGTATATATAATATATAT ACGGAATATATATATACGGAATGTATATATAATATATATACGGAATATAT ATATACGGAATGTATATATAATATATATACGGAATATATATATACGGAAT GTATATATAATATATATACGGAATATATATATACGGAATGTATATATAAT ATATATACGGAATATATATATACGGAATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2262		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(456): Show TAATATATATGGAATATATATATACGGAATATATATATAATATATATACG GAATATATATATACGGAATGTATATATACGGAATATATATACGGAATGTA TATATACGGAATATATATACGGAATGTATATATACGGAATATATATACGG AATGTATATATACGGAATATATATACGGAATGTATATATACGGAATATAT ATACGGAATGTATATATACGGAATACATATATACGGAATACATATATACG GAATACATATATACGGAATACATATATATGGAATACATATATACGGAATA CATATATGGAATACATATATGGAATATATATATATGGAATACATATATGG AATATATATATATGGAATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATGGAATATATATACATGGAATATATATATGGA ATATATATACATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0017 a0001c0001t0015g0017	1	323	0.0031	463	c.-21 others(474): Show c.-2147_-2146insAATATATATGGAATATATATATACGGAATATATA TATAATATATATACGGAATATATATATACGGAATGTATATATACGGAATA TATATACGGAATGTATATATACGGAATATATATACGGAATGTATATATAC GGAATATATATACGGAATGTATATATACGGAATATATATACGGAATGTAT ATATACGGAATATATATACGGAATGTATATATACGGAATACATATATACG GAATACATATATACGGAATACATATATACGGAATACATATATATGGAATA CATATATACGGAATACATATATGGAATACATATATGGAATATATATATAT GGAATACATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATGGAATATATATACATG GAATATATATATGGAATATATATACATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
KANK1_chr9_499695_751103	514126	C C	CCCTCCTT others(456): Show CCCTCCTTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCTCCC TCTCTCCCTCCTTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTTCCTCTCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTTCCTC TCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTC CCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTTCCTTCCTTCCTCCCTCCC TCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0001 a0018c0017t0001	a0018c0017t0001g0082 a0018c0017t0001g0082	1	254	0.0039	463	c.-84 others(480): Show c.-84+9372_-84+9373insCCTCCTTCTCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCTCTCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCT CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTTCCTCTCT CCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTCTCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCC CTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11			chr9	TogoVar
KCNQ2_chr20_63395208_63477655	63443418	C C	CCACCATC others(456): Show CCACCATCACCATCACCACCATCACCATCACCATCACCACCACCACCATC ACCACCACCACCATGATCACCACCATCACCATCACCACCATCACATCACC ATCACCACCATCATCACCACCATCACCATCACCATCATCACCACCACCAT CACCATTATCACCACCACCACCATCACCATCACCACCATCACCACCACCA CCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACC ATCACCATCACCACCATCACCATCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCACCACCATGATCACCACCATCACCATCACCACCA TCACATCACCATCACCACCATCATCACCACCATCACCATCACCATCATCA CCACCACCATCACCATTATCACCACCACCACCATCACCATCACCACCATC ACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19000.hp2 NA18979.hp2 NA19000.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0016 a0002c0006t0016	a0002c0006t0016g0272 a0002c0006t0016g0309 a0002c0006t0016g0272 a0002c0006t0016g0309	2	330	0.0061	463	c.691 others(478): Show c.691-888_691-887insATGGTGGTGGTGGTGATGGTGGTGATGGTG ATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGATGGTGATGGT GATGGTGGTGATGATGGTGGTGATGGTGATGTGATGGTGGTGATGGTGAT GGTGGTGATCATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGG TGATGGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGGTGGTGGTGATGGT GGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGA TGGTGATGGTGATGGTGGTGATGATGGTGGTGATGGTGATGTGATGGTGG TGATGGTGATGGTGGTGATCATGGTGGTGGTGGTGATGGTGGTGGTGGTG ATGGTGATGGTGATGGTGGTGATGGTGATGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
LMF1_chr16_848634_975984	859648	G G	GAGTGGTG others(456): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGT GTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCA CGGGACGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGGG ACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGG GTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGC GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCT CGGGGTGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0014 a0003c0014t0001g0014	1	294	0.0034	463	c.153 others(482): Show c.1530-4943_1530-4942insGCACACCCACCCCGAGACACCACTCA CACCCACCCCGAGACACCACTCACACCCACCCCGTGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGAGACACCACTCGCACCCGTCCCG AGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGAC ACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCA CTCGCACCCCTCCCGTGACACCACTCGCACCCGTCCCGTGACACCACTCG CACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACC CGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGT CCCGTGACACCACTCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859648	G G	GAGTGGTG others(456): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAG TGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGT GTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCA CGGGAGGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGG ACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGG GTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCT CGGGGTGGGTGTGC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0013 a0003c0014t0001g0013	1	294	0.0034	463	c.153 others(482): Show c.1530-4943_1530-4942insGCACACCCACCCCGAGACACCACTCA CACCCACCCCGAGACACCACTCACACCCACCCCGTGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG AGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGAC ACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCA CTCGCACCCGTCCCGAGACACCACTCGCACCCCTCCCGTGACACCACTCG CACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCACC CGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTGCACACCCGT CCCGTGACACCACTCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859736	C C	CGGGTGTG others(456): Show CGGGTGTGAGTGATGTCTCGGGACGGGTGTGAGTGATGTCACGGGACGGG TGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGT GCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAG TGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGT GTCACGGGAGGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCT CGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTG TGAGTGGTGTCACGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAG TGGTGTCTCGGGGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0022 a0022	a0022c0041 a0022c0041	a0022c0041t0004 a0022c0041t0004	a0022c0041t0004g0270 a0022c0041t0004g0270	1	294	0.0034	463	c.153 others(482): Show c.1530-5031_1530-5030insACCCCGAGACACCACTCACACCCACC CCGAGACACCACTCACACCCACCCCGTGACACCACTCACACCCATCCCGA GACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CGCACACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCG CACCCGTCCCGAGACACCACTCGCACCCCTCCCGTGACACCACTCGCACC CGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTC CCGAGACACCACTCGCACCCGTCCCGTGACACCACTGCACACCCGTCCCG TGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGA CATCACTCACACCCGTCCCGAGACATCACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7061838	T T	TATAATAT others(456): Show TATAATATATAATTATATTCTATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTCTATATTAT ATAATTATAATATAATTATATAATATAATTATATTGTATATAATTATATT AAATATATTATATAATATATAATTATATTATATATTATATAATATATAAT TATATTATATATTATATAATATATAATTATATTATATATTATATAATATA TAATTATATTATATATTATAATACATTTAATATAATTATATTATAGATTA TAATCTATAATATAATTATATTAATAGTATTATAATATATAATATATTAT ATATAATTATATTATAACATATTATATATAATTATATTATAGATCATAAT CTATAATATACTTATATATAATATGTTATAATATATAATTATATTCTATA TATAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02040.hp1 HG00558.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0004 a0002c0002t0003g0041 a0002c0002t0001g0004 a0002c0002t0003g0041	2	288	0.0069	463	c.-32 others(474): Show c.-3234_-3233insTATATATAATTATATATAGAATATAATTATATAT TATAACATATTATATATAAGTATATTATAGATTATGATCTATAATATAAT TATATATAATATGTTATAATATAATTATATATAATATATTATATATTATA ATACTATTAATATAATTATATTATAGATTATAATCTATAATATAATTATA TTAAATGTATTATAATATATAATATAATTATATATTATATAATATATAAT ATAATTATATATTATATAATATATAATATAATTATATATTATATAATATA TAATATAATTATATATTATATAATATATTTAATATAATTATATACAATAT AATTATATTATATAATTATATTATAATTATATAATATAGAATATAATTAT ATATTATATAATTATATTCTATATAGAATATAATTATATATTATATAATT ATATTATATAGAATATAATTATATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3163		chr19	TogoVar
MLC1_chr22_50054391_50090426	50057515	G G	GTGAGTCA others(456): Show GTGAGTCAGGTCTGGGTTGTGAGTCAGGTCTGGGTTGGGGGATCAGGTCT GGGTTGGGGTCAGGTCTGGGTTGAGCGGGAGGTCTGGGTTGGGGGTCAGG TCTGGGTTGGGGGTCAGGTCTGGGTTGGGGGATCAGGTCTGGATTGTGGG TCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGTGAGTCAGGTCTGGGTTGG GGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGAGGGTCAGGTCTGGGT TGAGCGGGAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGGTCAGGTCT GGGTTGAGCGGGAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGGGGTCAGG TCTGGATTGTGGGTCAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGGGGTC AGGTCTGGGTTGAGGGTCAGGTTTGGGTTGAGCGGGAGGTCTGGGTTGGG GTCAGGTCTGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0014 a0001c0013t0014	a0001c0013t0014g0105 a0001c0013t0014g0105	1	212	0.0047	463	c.40 others(474): Show c.4067_*4068insAACCCAGACCTGACCCCAACCCAGACCTCCCGCT CAACCCAAACCTGACCCTCAACCCAGACCTGACCCCAACCCAGACCTGAC CCCCAACCCAGACCTGACCCACAATCCAGACCTGACCCCAACCCAGACCT GACCCCCAACCCAGACCTCCCGCTCAACCCAGACCTGACCCCCCAACCCA GACCTGACCCCAACCCAGACCTCCCGCTCAACCCAGACCTGACCCTCAAC CCAGACCTGACCCCAACCCAGACCTGACCCCCAACCCAGACCTGACTCAC AACCCAGACCTGACCCCAACCCAGACCTGACCCACAATCCAGACCTGATC CCCCAACCCAGACCTGACCCCCAACCCAGACCTGACCCCCAACCCAGACC TCCCGCTCAACCCAGACCTGACCCCAACCCAGACCTGATCCCCCAACCCA GACCTGACTCACAACCCAGACCTGACTCA	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding		1875		chr22	TogoVar
MSLN_chr16_755734_773862	767711	G G	GCGTGGAG others(456): Show GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAG GGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGG GGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGT GTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGG GGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAG GGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGG GGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGG AGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCG TGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGT GCGTGGAGGGGGGC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0023 a0023	a0023c0059 a0023c0059	a0023c0059t0001 a0023c0059t0001	a0023c0059t0001g0287 a0023c0059t0001g0287	1	388	0.0026	463	c.159 others(480): Show c.1596+241_1596+242insCGTGGAGGAGGGGCGCGTGGAGGGGGCC GTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGG GCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG AGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGT GGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGC GTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGG CGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGT GCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTG GAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTG TGGGGGGGCGTGGAGGGGGGTGCGTGGAGGGGGGC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17			chr16	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(456): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	350	0.0029	463	c.-28 others(474): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(456): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA19002.hp2 NA19085.hp2 NA18612.hp1 NA19002.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0002 a0001c0002t0002g0011 a0001c0002t0002g0017	3	350	0.0086	463	c.-28 others(474): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(456): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATGCAGTAT GTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCA TGCAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATAT ATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTAT ATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	362	0.0028	463	c.-75 others(482): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTAT ACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATACA CAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACATACAGTATACATACATACA GTATACATACATACAGTATACATGCTGTACACAGTATACATGCTGTACAC AGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(456): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTG CAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0311 a0001c0001t0003g0311	1	324	0.0031	463	c.140 others(480): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGG GATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(456): Show GGGGAGGGGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGTGGGGGAG GGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGAGAAGG GAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGG GGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGAGGAGGAA GGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGG GGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGA GGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGGGGA GGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0077 a0002c0002t0030g0077	1	344	0.0029	463	c.154 others(480): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCC CATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTC CCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCTCCCCCTCCCCTCCTCCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NXN_chr17_794310_984776	841393	C C	CGGCGAGC others(456): Show CGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCACATGGGCGAGCAGGT CCCCCCTGACCATGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCA CGGAGCATCTCACACCCGCGAGCAGGTCCACCCTGACCACGGAGCATCTC ACACGGGCGAGCAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGC AGGTCCCCCCGACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCTG ACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGCGCA TCTCACGCCGGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACGGGC GAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCC CCCTGACCACGGAGCATCTCACGCCGGCGAGCAGGTCCACCCTGACCACG GAGCATCTCACACG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0040 a0001c0001t0007g0040	1	242	0.0041	463	c.361 others(482): Show c.361-15316_361-15315insCGTGTGAGATGCTCCGTGGTCAGGGT GGACCTGCTCGCCGGCGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGA TGCTCCATGGTCGGGAGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTC AGGGGGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCT GCTCGCCGGCGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGT GAGATGCTCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGT GGTCAGGGTGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCGGGGGGA CCTGCTCGCCCGTGTGAGATGCTCCATGGTCAGGGGGGACCTGCTCGCCC ATGTGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841559	C C	CCCCCCGA others(456): Show CCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCA CGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCA CACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCA GGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTG ACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCAT CTCACACCCACGGGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGC GAGCAGGTCCTCCCTGACCACGGCGCATCTCACACCCACAGGCAGGTCCC CCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACG GAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCAC ACCCACAGGCAGGT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	242	0.0041	463	c.361 others(482): Show c.361-15482_361-15481insACCTGCCTGTGGGTGTGAGATGCGCC GTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGG GGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCCTG TGGGTGTGAGATGCGCCGTGGTCAGGGAGGACCTGCTCGCCCGTGTGAGA TGCTCCGTGGTCAGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGT CGGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCT GCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCG TGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGG ACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(456): Show AGCAGGTCCCCCCGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCC CGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCACCCTGACCACGGCG CATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACG GGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTC CTCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCAC GGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCA TGCCGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACATGGGCGAGC AGGTCCACCCTGACCACGGCGCATCTCACACCCACGGGCAGGTCCACCCT GACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCA TCTCACACCCACAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0241 a0001c0001t0033g0241	1	242	0.0041	463	c.361 others(482): Show c.361-15514_361-15513insCTGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTG CCCGTGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCATGT GAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCGGCATGAGATGCGCCG TGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGG GACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGCC GGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAG GGTGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCT CGCGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841603	C C	CGACCACG others(456): Show CGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGG GCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTC CCCCCAACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACG GCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCAC ACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCA GGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGAC CACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATC TCACACCCACAGGCAGGTCCCCCCTGACCACAGCGCATCTCACACGGGCG AGCAGGTCCCCCCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	242	0.0041	463	c.361 others(482): Show c.361-15526_361-15525insAGGGGGGACCTGCTCGCCCGTGTGAG ATGCGCTGTGGTCAGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGG TCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACC TGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCA TGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGG GACCTGCCTGTGGGTGTGAGATGCGCCGTGGTTGGGGGGACCTGCTCGCC CGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATG CTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCG GGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PAM16_chr16_4335251_4356321	4344737	A A	AGGGGATT others(456): Show AGGGGATTGTGTGAGGGGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGA GGAGGGGGTTCTGTGAGAGGAGGGGATTGTGTGAGAGAAGGGGACTGTGT GAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACT GTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGG GGTTCTGTGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAG GGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGA GGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGT GAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGGGGGGGGGTTC CGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGG ATTGTGTGAGAGGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19080.hp2 NA19091.hp1 HG02027.hp2 NA19080.hp2 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0194 a0002c0002t0001g0203 a0002c0002t0001g0204	3	367	0.0082	463	c.4-1 others(476): Show c.4-1447_4-1446insCCCTCTCACACAATCCCCTCCTCTCACGGAAC CCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCCCCCTCACAC AATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTC ACAGAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCTCC TCTCACACAGTCCCCTTCTCTCACAGAACCCCCTCCTCTCACACAATCCC CTCCTCTCACGGAACCCCCTCCTCACAGAACCCCCTCCTCTCACAGAACC CCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAG AACCCCCTCCTCTCACGGAACCCCCTCCTCTCACACAGTCCCCTTCTCTC ACACAATCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGAACCCCCTCC TCTCACGGAACCCCCCCCTCACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAX1_chr20_21700664_21723481	21721656	A A	ATATATGT others(456): Show ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACGTATATGTATTACAT ATATAACATATATGTATTACGTATATGTAATACACATATAACATATATTA CGTATATGTAATACACATATAACATATATTACGTATATGTAATACACATA TAACATATATTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	400	0.0025	463	c.70 others(474): Show c.7094_*7095insTATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC GTATATGTATTACATATATAACATATATGTATTACGTATATGTAATACAC ATATAACATATATTACGTATATGTAATACACATATAACATATATTACGTA TATGTAATACACATATAACATATATTACG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3176		chr20	TogoVar
PCDH11Y_chrY_4995296_5747224	5525239	A A	AGGGGGGA others(456): Show AGGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGG GGAGGAGGAGGGGGAGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGG TGGAGGGCGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGG AGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGA GGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGCGGAGGGGGAGGAGGAGG GGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGG GAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGGAGGAGG AGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGG TAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGG AGTGGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	115	0.0087	463	c.305 others(484): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGCGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGA GGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACG GGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGG GAGGAGGAGGGGGGAGGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGA GGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGA GGAGGAGGGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(456): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCCGGGCGGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0059 a0007c0015t0001g0059	1	166	0.0060	463	c.633 others(480): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAGGGGGGGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGACGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CCGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063964	C C	CCCCCCCA others(456): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAAG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGG TGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0019 a0019	a0019c0042 a0019c0042	a0019c0042t0013 a0019c0042t0013	a0019c0042t0013g0129 a0019c0042t0013g0129	1	166	0.0060	463	c.633 others(480): Show c.633-3986_633-3985insCACCTCCCTCCCGGACGGGGCGGCTGGT CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCC GGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGACGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CTCTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIWIL1_chr12_130332887_130377637	130338250	T T	TTGCGGGG others(456): Show TTGCGGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTG GCGAGGTCGCAGGTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTC CCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGC GGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAGGTGCGGGAGATG CAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGAGATGCAGGAGCC GGGTGCGGGGGCGAGGTCCCAGGTGCGGGAGATGCAGGAGCCGGGTGCGG GGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGCGAGG TCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGGCGAGGTCCCAGG TGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGGG ATGCAGGAGCCGGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0300 a0001c0001t0004g0300	1	425	0.0024	463	c.-13 others(478): Show c.-13+111_-13+112insTCGAGGTCCCAGGTGCGGGGGATGCAGGAG CCAGATGCGGTGGCGAGGTCGCAGGTGCGGGAGATGCAGGAGCCGGGTGC GGGGTCGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGTCGA GGTCCCAGGTGCGGGGGATGCAGGAGCCAGATGCGGTGGCGAGGTCCCAG GTGCGGGAGATGCAGGAGCCGGGTGCGGGGTCGAGGTCCCAGGTGCGGGA GATGCAGGAGCCGGGTGCGGGGGCGAGGTCCCAGGTGCGGGAGATGCAGG AGCCGGGTGCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGT GCGGGGGCGAGGTCCCAGGTGTGGGAGATGCAGGAGCCGGGTGCGGGGGG CGAGGTCCCAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGGGCGAGGTCC CAGGTGCGGGGGATGCAGGAGCCGGGTGCGGGG	PIWIL1	ENSG00000125207.7	transcript	ENST00000245255.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRKAG2_chr7_151551127_151882115	151855320	C C	CCACACAC others(456): Show CCACACACCACCCTCCACACACACCACCCTCCACACACCGCCCTCCACAC ACACCATGCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACAC ACCGCCCTCCACACACACCATCCTCCACACACACCACCCTCCACACACCA CCCTCCACACACACCGCCCTCCACACACCGCCCTCCACACACACCACTTT ACACACACGCCACCCTCCACACACCACCCTACACACACACCACCCTCCAC ACACGCCACCCTCCACACACACCACCCTCCACACACACCACGCTCCACAC ACACCGCCCTCCACACACACCACCCTCCACACACACCACCCTCCACACAC ACCACCCTCCACACACCACCCTCCACACACACCACCCTCCACACACCACC CTCCACACACACCACCCTCCACACACACCACCCTCCACACACCACCCTCC ACACACACCACCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0085 a0001c0001t0006g0085	1	252	0.0040	463	c.114 others(482): Show c.114+21186_114+21187insAGGGTGGTGTGTGTGGAGGGTGGTGT GTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGG AGGGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGTGGAGGG TGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCGTG GTGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGCGTGTGTGGAGGGTGGT GTGTGTGTAGGGTGGTGTGTGGAGGGTGGCGTGTGTGTAAAGTGGTGTGT GTGGAGGGCGGTGTGTGGAGGGCGGTGTGTGTGGAGGGTGGTGTGTGGAG GGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGG CGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGCG GTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
QSOX2_chr9_136201333_136250812	136234723	G G	GGCTTGGG others(456): Show GGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTGCGCC CGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGGTCTC CACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGCCACA CCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCCACTG CGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGGCTGG TCTCCACGAGGCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCATCGCGC CACACCCCAGCTTGGGAGCAAGGCTGGTCTCCACGAGGCCCCCCAGCTCC ACTGCGCCCGCCCCAGCCTCATCGCGCCACACCCCAGCTTGGGAGCAAGG CTGGTCTCCACGAGGCCCCCCCAGCTCCACTGCGCCCGCCCCAGCCTCAT CGCGCCACACCCCA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0333 a0001c0001t0042g0333	1	392	0.0026	463	c.329 others(480): Show c.329-7850_329-7849insTGGGGTGTGGCGCGATGAGGCTGGGGCG GGCGCAGTGGAGCTGGGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGC TGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGGGGCC TCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAGGCTG GGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGCTCCC AAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCTGGGG GGCCTCGTGGAGACCAGCCTTGCTCCCAAGCTGGGGTGTGGCGCGATGAG GCTGGGGCGGGCGCAGTGGAGCTGGGGGGCCTCGTGGAGACCAGCCTTGC TCCCAAGCTGGGGTGTGGCGCGATGAGGCTGGGGCGGGCGCAGTGGAGCT GGGGGGCCTCGTGGAGACCAGCCTTGCTCCCAAGC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	492360	T T	TCCTCCCG others(456): Show TCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCC GGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGA GGCCGCCCAGAGCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0151 a0001c0001t0006g0151	1	295	0.0034	463	c.126 others(482): Show c.1265+3361_1265+3362insCTCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAC2_chr22_37220270_37249269	37227202	C C	CCTCCCAC others(456): Show CCTCCCACACCATACACCCCTCCCACACCATACACTCCTCCCATGCCTCC CATGCCATACAAGCCCTCCTGTGCCATACACACCCCTCCCACGCCATACA CCCCCCTCCCACGCCTCCCACACCATACACCCCTCCCACACCATACACCC CTCCCACGCCTCCCACACCATACAAGCCCTCCCGTGCCATACACCCCTCC CACAGCATATAACCCCTCCCACGCCATAAAACCCCTCTCACACCATACAC CCCCCTCCCACACCTCCCACGCCATACAACCCCTCTCACACCATACACCG CTCCCATGCCATACACCCCTCCCACGCCTCCCACACCATACAACCCTCCC ATGACATACAGCCCCTCCTACGCCATACAACCCCTCCTGTGCCATACACC CCTCCCACGTCATACACCCCCTCCCACGTCATACATCCCCTCCCATGCCT CCCACACCATACAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02717.hp1 HG02809.hp1 others(1): Show HG01106.hp1 HG02717.hp1 HG02809.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0052 a0001c0001t0009g0204 a0001c0001t0009g0207 a0001c0001t0009g0052 a0001c0001t0009g0204 a0001c0001t0009g0207	4	448	0.0089	463	c.449 others(478): Show c.449-400_449-399insTTGTATGGTGTGGGAGGCATGGGAGGGGAT GTATGACGTGGGAGGGGGTGTATGACGTGGGAGGGGTGTATGGCACAGGA GGGGTTGTATGGCGTAGGAGGGGCTGTATGTCATGGGAGGGTTGTATGGT GTGGGAGGCGTGGGAGGGGTGTATGGCATGGGAGCGGTGTATGGTGTGAG AGGGGTTGTATGGCGTGGGAGGTGTGGGAGGGGGGTGTATGGTGTGAGAG GGGTTTTATGGCGTGGGAGGGGTTATATGCTGTGGGAGGGGTGTATGGCA CGGGAGGGCTTGTATGGTGTGGGAGGCGTGGGAGGGGTGTATGGTGTGGG AGGGGTGTATGGTGTGGGAGGCGTGGGAGGGGGGTGTATGGCGTGGGAGG GGTGTGTATGGCACAGGAGGGCTTGTATGGCATGGGAGGCATGGGAGGAG TGTATGGTGTGGGAGGGGTGTATGGTGTGGGAG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RAC2_chr22_37220270_37249269	37227202	C C	CCTCCCAC others(456): Show CCTCCCACACCATACACCCCTCCCACACCATACACTCCTCCCATGCCTCC CATGCCATACAAGCCCTCCTGTGCCATACACACCCCTCCCACGCCATACA CCCCCCTCCCACGCCTCCCACACCATACACCCCTCCCACACCATACACCC CTCCCACGCCTCCCACACCATACAAGCCCTCCCGTGCCATACACCCCTCC CACAGCATATAACCCCTCCCACGCCATAAAACCCCTCTCACACCATACAC CCCCCTCCCACACCTCCCACGCCATACAACCCCTCTCACACCATACACCG CTCCCATGCCATACACCCCTCCCACGCCTCCCATGCCATACAACCCTCCC ATGACATACAGCCCCTCCTACGCCATACAACCCCTCCTGTGCCATACACC CCTCCCACGTCATACACCCCCTCCCACGTCATACATCCCCTCCCATGCCT CCCACACCATACAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG01257.hp2 others(30): Show HG00323.hp1 HG00609.hp2 HG01257.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02300.hp1 HG02735.hp1 HG03704.hp1 HG03710.hp1 HG04184.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18949.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18997.hp1 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19086.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0013 a0001c0001t0004g0020 a0001c0001t0004g0028 others(15): Show a0001c0001t0004g0013 a0001c0001t0004g0020 a0001c0001t0004g0028 a0001c0001t0004g0049 a0001c0001t0004g0087 a0001c0001t0004g0098 a0001c0001t0004g0122 a0001c0001t0004g0174 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0187 a0001c0001t0010g0048	33	448	0.0737	463	c.449 others(478): Show c.449-400_449-399insTTGTATGGTGTGGGAGGCATGGGAGGGGAT GTATGACGTGGGAGGGGGTGTATGACGTGGGAGGGGTGTATGGCACAGGA GGGGTTGTATGGCGTAGGAGGGGCTGTATGTCATGGGAGGGTTGTATGGC ATGGGAGGCGTGGGAGGGGTGTATGGCATGGGAGCGGTGTATGGTGTGAG AGGGGTTGTATGGCGTGGGAGGTGTGGGAGGGGGGTGTATGGTGTGAGAG GGGTTTTATGGCGTGGGAGGGGTTATATGCTGTGGGAGGGGTGTATGGCA CGGGAGGGCTTGTATGGTGTGGGAGGCGTGGGAGGGGTGTATGGTGTGGG AGGGGTGTATGGTGTGGGAGGCGTGGGAGGGGGGTGTATGGCGTGGGAGG GGTGTGTATGGCACAGGAGGGCTTGTATGGCATGGGAGGCATGGGAGGAG TGTATGGTGTGGGAGGGGTGTATGGTGTGGGAG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RAC2_chr22_37220270_37249269	37227202	C C	CCTCCCAC others(456): Show CCTCCCACACCATATACCCCTCCCACACCATACACTCCTCCCATGCCTCC ATGCCATACAAGCCCTCCTGTGCCATACACACCCCTCCCACGCCATACAC CCCCTCCCACGCCTCCCACACCATACACCCCTCCCACACCATACACCCTC CCACGCCTCCCACACCATACAAGCCCTCCCGTGCCATTACACCCCTCCCA CAGCATATAACCCCCCCTCCCACGCCATAAAACCCCTCTCACACCATACA CCCCCTCCCACACCTCCCACGCCATACAACCCCTCTCACACCATACACCG CTCCCATGCCATACACCCCTCCCACGCCTCCCACGCCATACAACCCTCCC ATGACATACAGCCCCTCCTACGCCATACAACCCCTCCTGTGCCATACACC CCTCCCACGTCATACACCCCCTCCCACGTCATACATCCCCTCCCATGCCT CCCACACCATACAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0066 a0002c0006t0001g0066	1	448	0.0022	463	c.449 others(478): Show c.449-400_449-399insTTGTATGGTGTGGGAGGCATGGGAGGGGAT GTATGACGTGGGAGGGGGTGTATGACGTGGGAGGGGTGTATGGCACAGGA GGGGTTGTATGGCGTAGGAGGGGCTGTATGTCATGGGAGGGTTGTATGGC GTGGGAGGCGTGGGAGGGGTGTATGGCATGGGAGCGGTGTATGGTGTGAG AGGGGTTGTATGGCGTGGGAGGTGTGGGAGGGGGTGTATGGTGTGAGAGG GGTTTTATGGCGTGGGAGGGGGGGTTATATGCTGTGGGAGGGGTGTAATG GCACGGGAGGGCTTGTATGGTGTGGGAGGCGTGGGAGGGTGTATGGTGTG GGAGGGGTGTATGGTGTGGGAGGCGTGGGAGGGGGTGTATGGCGTGGGAG GGGTGTGTATGGCACAGGAGGGCTTGTATGGCATGGAGGCATGGGAGGAG TGTATGGTGTGGGAGGGGTATATGGTGTGGGAG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RAC2_chr22_37220270_37249269	37227202	C C	CCTCCCAC others(456): Show CCTCCCACACCATATACCCCTCCCACACCATACACTCCTCCCATGCCTCC CATGCCATACAAGCCCTCCTGTGCCATACACACCCCTCCCACGCCATACA CCCCCCTCCCACGCCTCCCACACCATACACCCCTCCCACACCATACACCC CTCCCACGCCTCCCACACCATACAAGCCCTCCCGTGCCATACACCCCTCC CACAGCATATAACCCCTCCCACGCCATAAAACCCCTCTCACACCATACAC CCCCCTCCCACACCTCCCACGCCATACAACCCCTCTCACACCATACACCG CTCCCATGCCATACACCCCTCCCACGCCTCCCACGCCATACAACCCTCCC ATGACATACAGCCCCTCCTACGCCATACAACCCCTCCTGTGCCATACACC CCTCCCACGTCATACACCCCCTCCCACGTCATACATCCCCTCCCATGCCT CCCACACCATACAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(135): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02559.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG03017.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03710.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18953.hp2 NA18961.hp1 NA18962.hp1 NA18968.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19080.hp1 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0004t0001 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0004g0063 a0001c0001t0012g0118 a0001c0004t0001g0138 a0001c0004t0001g0149 a0001c0004t0001g0152 a0001c0008t0001g0069	138	448	0.3080	463	c.449 others(478): Show c.449-400_449-399insTTGTATGGTGTGGGAGGCATGGGAGGGGAT GTATGACGTGGGAGGGGGTGTATGACGTGGGAGGGGTGTATGGCACAGGA GGGGTTGTATGGCGTAGGAGGGGCTGTATGTCATGGGAGGGTTGTATGGC GTGGGAGGCGTGGGAGGGGTGTATGGCATGGGAGCGGTGTATGGTGTGAG AGGGGTTGTATGGCGTGGGAGGTGTGGGAGGGGGGTGTATGGTGTGAGAG GGGTTTTATGGCGTGGGAGGGGTTATATGCTGTGGGAGGGGTGTATGGCA CGGGAGGGCTTGTATGGTGTGGGAGGCGTGGGAGGGGTGTATGGTGTGGG AGGGGTGTATGGTGTGGGAGGCGTGGGAGGGGGGTGTATGGCGTGGGAGG GGTGTGTATGGCACAGGAGGGCTTGTATGGCATGGGAGGCATGGGAGGAG TGTATGGTGTGGGAGGGGTATATGGTGTGGGAG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RAC2_chr22_37220270_37249269	37227202	C C	CCTCCCAC others(456): Show CCTCCCACACCATATACCCCTCCCACACCATACACTCCTCCTATGCCTCC CATGCCATACAAGCCCTCCTGTGCCATACACACCCCTCCCACGCCATACA CCCCCCTCCCACGCCTCCCACACCATACACCCCTCCCACACCATACACCC CTCCCACGCCTCCCACACCATACAAGCCCTCCCGTGCCATACACCCCTCC CACAGCATATAACCCCTCCCACGCCATAAAACCCCTCTCACACCATACAC CCCCCTCCCACACCTCCCACGCCATACAACCCCTCTCACACCATACACCG CTCCCATGCCATACACCCCTCCCACGCCTCCCACGCCATACAACCCTCCC ATGACATACAGCCCCTCCTACGCCATACAACCCCTCCTGTGCCATACACC CCTCCCACGTCATACACCCCCTCCCACGTCATACATCCCCTCCCATGCCT CCCACACCATACAA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	448	0.0022	463	c.449 others(478): Show c.449-400_449-399insTTGTATGGTGTGGGAGGCATGGGAGGGGAT GTATGACGTGGGAGGGGGTGTATGACGTGGGAGGGGTGTATGGCACAGGA GGGGTTGTATGGCGTAGGAGGGGCTGTATGTCATGGGAGGGTTGTATGGC GTGGGAGGCGTGGGAGGGGTGTATGGCATGGGAGCGGTGTATGGTGTGAG AGGGGTTGTATGGCGTGGGAGGTGTGGGAGGGGGGTGTATGGTGTGAGAG GGGTTTTATGGCGTGGGAGGGGTTATATGCTGTGGGAGGGGTGTATGGCA CGGGAGGGCTTGTATGGTGTGGGAGGCGTGGGAGGGGTGTATGGTGTGGG AGGGGTGTATGGTGTGGGAGGCGTGGGAGGGGGGTGTATGGCGTGGGAGG GGTGTGTATGGCACAGGAGGGCTTGTATGGCATGGGAGGCATAGGAGGAG TGTATGGTGTGGGAGGGGTATATGGTGTGGGAG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CCCCTCCT others(456): Show CCCCTCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTC CCCTCCTCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCTCCTTCCTTCC CCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCC CCTTCCCTCCCTTCCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTT TCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTAC ACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCC CTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCC CCTCCCCCCACACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCCTCCCCT CCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCT CCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0132 a0001c0004t0007g0132	1	218	0.0046	463	c.80+ others(480): Show c.80+30509_80+30510insCCCTCCTTCCCCTCCCCTTCCCTCCCTT CCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTT CCTTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTC CCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCCTCCCCTCCTCT CCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTT CCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTT CCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTC CCGTCCCCTTCCCTCCCTTCCCCTCCCCCCACACCCTCCCTTCCCCTCCC TTCTTCTCTCCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCC TCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCA	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24			chr17	TogoVar
RGS12_chr4_3288021_3444913	3341528	A A	ATGGTGTG others(456): Show ATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGA GGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGTGTGG GGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGA GTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAG GGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATG GTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGG TGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGG GCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGA GAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGG GGAGGGTGGAGAGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02451.hp2 HG02572.hp1	a0002 a0002	a0002c0017 a0002c0057 a0002c0017 a0002c0057	a0002c0017t0001 a0002c0057t0001 a0002c0017t0001 a0002c0057t0001	a0002c0017t0001g0252 a0002c0057t0001g0259 a0002c0017t0001g0252 a0002c0057t0001g0259	2	312	0.0064	463	c.188 others(482): Show c.1882-1406_1882-1405insTGTGGGGGGAGGGAGGGTGGAGAGAT GGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGG AGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTG GGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAG AGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAG GGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGG GGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGG GTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGT GGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGA GATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RIMOC1_chr5_41899344_41926636	41914502	A A	AAACAAAA others(456): Show AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0034 a0001c0001t0006g0034	1	318	0.0031	463	c.601 others(480): Show c.601+2320_601+2321insACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACA	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
RIN3_chr14_92508781_92693994	92547356	T T	TATTATAA others(456): Show TATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTAT AAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATA AATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTAT CTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTAT TTTATAATTATAAAATAAATTATCTTTATTTTATAATTATAAAATAAATT ATCTTTATTTTATAATTATAAAATTATCTTTATTTTATAATTATAAAATA ATCTTTATTTTATAATTATAAAATAATCTTTATTTTATAATTATAAAATA ATCTTTATTTTATAATTATAAAATAATCTTTATTTTATAATTATAAAATA ATCTTTATTTTATTATTATAAAATAATCTTTATTTTATTATTATAATAAA TTATCTTTATTACA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0182 a0006c0005t0001g0182	1	334	0.0030	463	c.45- others(478): Show c.45-8393_45-8392insTATAAAATAAATTATCTTTTATTATAAAAT AAATTATCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTA TCTTTTATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTT ATTATAAAATAAATTATCTTTTATTATAAAATAAATTATCTTTTATTATA AAATAAATTATCTTTATTTTATAATTATAAAATAAATTATCTTTATTTTA TAATTATAAAATAAATTATCTTTATTTTATAATTATAAAATTATCTTTAT TTTATAATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTTAT TTTATAATTATAAAATAATCTTTATTTTATAATTATAAAATAATCTTTAT TTTATAATTATAAAATAATCTTTATTTTATTATTATAAAATAATCTTTAT TTTATTATTATAATAAATTATCTTTATTACAAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar

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