Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SH3RF3_chr2_109124205_109509634	109199333	TGGAATGG others(465): Show TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGATGGAATGGAATGGGATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp2 HG00738.hp2 others(23): Show HG00423.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01981.hp2 HG02027.hp1 HG02074.hp1 HG02132.hp1 HG02165.hp1 HG02523.hp2 HG02602.hp2 HG02886.hp1 HG03491.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18950.hp2 NA18970.hp1 NA19054.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0015 others(3): Show a0001c0001 a0001c0005 a0001c0015 a0002c0012 a0003c0006 a0003c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 a0001c0001t0035 a0001c0001t0046 a0001c0001t0048 a0001c0001t0056 a0001c0001t0057 a0001c0005t0004 a0001c0015t0011 a0002c0012t0004 a0003c0006t0002 a0003c0009t0038	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 others(23): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0004g0039 a0001c0001t0005g0032 a0001c0001t0005g0041 a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0008g0016 a0001c0001t0011g0119 a0001c0001t0021g0027 a0001c0001t0021g0028 a0001c0001t0035g0030 a0001c0001t0046g0043 a0001c0001t0048g0058 a0001c0001t0056g0153 a0001c0001t0057g0074 a0001c0005t0004g0040 a0001c0015t0011g0115 a0002c0012t0004g0172 a0003c0006t0002g0116 a0003c0009t0038g0029	26	65	0.4000	-472	c.573 others(19): Show c.573+69221_573+69692del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9			chr2	TogoVar
STK38L_chr12_27239286_27330959	27240712	ATGTATAG others(465): Show ATGTATAGTTGTATAGTTATATATATTACATATATGACTATGTATAGTTG TATAGTTATATATATTACATATATGACTATGTATAGTTGTATAGTTATAT ATATTACATATATCACTATGTATAGTTGTATAGTTATATATATTACATAT ATCACTATGTATAGTTGTATAGTTATATATATTACATATATGACTATGTA TAGTTATATATATTACATATATGACTATGTATAGTTATATATATTACATA TATGACTATGTATAGTTATATATATTACATATATGACTGTATAGTTATAT ATATTACATATATGACTATGTATAGTTATATATATTACATATATGACTCT GTATAGTTATATATATTACATATATGACTCTGTATAGTTATATATATTAC ATATATGACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGT TATATATATTACATATATGACTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	369	0.0027	-472	c.-36 others(11): Show c.-3631_-3160del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3573		chr12	TogoVar
TCF25_chr16_89868592_89916379	89901414	TGAGGGGC others(465): Show TGAGGGGCTGTGAGGGGTGAGGGTGAAATCCCTCCTTAAGACGGGCCTCC GGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGA GGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAACACGG TGAAACCACGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGTTGGC GGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCAT GAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCAACATAGTGAGACTCCGTCTCAAAAAAAAAGAAAAAAAAA AAAAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATCCC TCCTTAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATC CCTCCTTAAGATGGGCCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00639.hp2 others(82): Show HG00323.hp2 HG00423.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01361.hp2 HG01891.hp2 HG01993.hp2 HG02055.hp2 HG02071.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18979.hp1 NA19043.hp1 NA19057.hp2 NA19070.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0001 a0001c0004 a0001c0005 others(5): Show a0001c0001 a0001c0004 a0001c0005 a0002c0003 a0002c0006 a0004c0009 a0005c0008 a0009c0013	a0001c0001t0001 a0001c0004t0002 a0001c0005t0001 others(6): Show a0001c0001t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0004 a0002c0003t0001 a0002c0006t0002 a0004c0009t0002 a0005c0008t0001 a0009c0013t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(81): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0144 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0004t0002g0059 a0001c0004t0002g0060 a0001c0004t0002g0062 a0001c0004t0002g0064 a0001c0004t0002g0066 a0001c0004t0002g0067 a0001c0004t0002g0068 a0001c0004t0002g0071 a0001c0004t0002g0096 a0001c0004t0002g0260 a0001c0005t0001g0263 a0001c0005t0001g0265 a0001c0005t0001g0266 a0001c0005t0004g0268 a0002c0003t0001g0190 a0002c0006t0002g0181 a0002c0006t0002g0189 a0004c0009t0002g0073 a0005c0008t0001g0057 a0009c0013t0002g0061	85	268	0.3172	-472	c.138 others(19): Show c.1381+1292_1382-1561del	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89902086	GGGCACCT others(465): Show GGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCAT GAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCAACATAGTGAGACTCCGTCTCAAAAAAAAAGAAAAAAAAA AAAAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATCCC TCCTTAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAATC CCTCCTTAAGATGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGGTGAAA TCCCTCCTTAAGACGGGCCTCCGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCTAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGACTAACACGGTGAAACCACGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGTTGGCC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18947.hp2 HG02622.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0187 a0001c0001t0001g0001 a0001c0001t0001g0187	2	290	0.0069	-472	c.138 others(19): Show c.1381+1409_1382-1444del	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TPO_chr2_1408463_1548673	1456652	TATATATA others(465): Show TATATATAGCATGTATGATAGTGTGTGGGCAGATGTGTACATAGCATGTA TGATACTCTGGGTACACATATATGTAGCATGTATGATAGTGTGTGGGCAG ATGTGTACATAGCATGTATGATACTGTGGGTACACATATATATATAGCAT GTATGATAGTGTGTGGGCACATGTGTACATAGCATGTATGATACTGTGGG TACACATATATGTAGCATGTATGATAGTGTGTGGGCAGATGTGTACATAG CATGTATGATACTGTGGGTACACATATATGTAGCATGCATGATAGTGTGT GGGCAGATGTGTACACAGCATGTATGATACTGTGGGTACACATATATGTA GCATGTATGATAGTGTGTGGGCAGATGTGTACATAGCATGTATGATACTG TGGGTACACATATATAGCATGTATGATAGTGTGGGCAGATGTGTACATAG CATGTATGATACTGTGGGTACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02015.hp1 HG03239.hp2 others(3): Show HG00741.hp1 HG02015.hp1 HG03239.hp2 HG04184.hp2 NA18962.hp1 NA19058.hp1	a0003 a0007 a0019 a0003 a0007 a0019	a0003c0003 a0007c0009 a0007c0013 others(1): Show a0003c0003 a0007c0009 a0007c0013 a0019c0017	a0003c0003t0005 a0007c0009t0003 a0007c0009t0006 others(3): Show a0003c0003t0005 a0007c0009t0003 a0007c0009t0006 a0007c0013t0007 a0007c0013t0012 a0019c0017t0002	a0003c0003t0005g0082 a0007c0009t0003g0051 a0007c0009t0006g0089 others(3): Show a0003c0003t0005g0082 a0007c0009t0003g0051 a0007c0009t0006g0089 a0007c0013t0007g0118 a0007c0013t0012g0066 a0019c0017t0002g0023	6	128	0.0469	-472	c.819 others(15): Show c.819+378_819+849del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
WIPF2_chr17_40214304_40289136	40221670	TGCCGGAT others(465): Show TGCCGGATTCAAGCGCTTCTCCTGCCTCAGTCCCCCAAGTAACTGGTACT ATAGGCATGCACCACCACGCCCAGCTAATTTTTTGTATTTTAGTAGAGAT GGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTG ATCCACCCACCTCGGCCTCCCAAAGTGTTGAGATTACAGGCATGAGCTAC CACACCTGGCCGCATGTTTAGTTTTTTAACTCTTATTAATGTCAACTTTT AAAAGTAAAAATTTCATATTGTGTTACATTGGTTGCCATCAAGATGAAGA TAGGGAAGTTAAGAGTTGGGGAAGGTGGAGATGAATGAAGTCAATTGATG AAGACTAGTAGAATGTAGTGTTGGTTTTTTTATTTGTTTATTTATTTATT TTGAGACAGAGTCTTGCTGTATTGCCCAGGCTGGAGTGCAATGGCACAAT CTTGGCTCACTGCAACCTCTGTC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0230 a0001c0001t0027g0230	1	312	0.0032	-472	c.-70 others(17): Show c.-70+2179_-70+2650del	WIPF2	ENSG00000171475.14	transcript	ENST00000323571.9	protein_coding	1/7			chr17	TogoVar
WNT7B_chr22_45915366_45982162	45939743	TTGGGCCC others(465): Show TTGGGCCCAGGAGGTCAAGGTTGCAGTGAGCCATGTTCGCACCACTGCAC TCCAGCCTGGGCAACAAAGTGAGACCCTATCTCAACCCCCACCTCAAAAA ACCCCAAAACATCATGCCAAGTGAAAGAAGCTAGACACCAAAGGCCACAT ATAGTGTGATTCCATTTCTATGAAATGCCCAGAGGAGCAGGAGTTGGAGA GTTAGACAGCACCTGAGTGTTGCCAGGGGCGAGAGGACTGGGACTGATTA AGCCACAGGGTTTCTTTCTGGGGTGATGAAAATGTTCTAAAATCAACTGC AGTGACAGCTACACAACTCTGGATATACTAAAGACCGTGGGCTTGTACAC ATTAAATGGATGAATTGTGAAGTATGTGGATTAGATCTCACTGAAGCTGT GATGGACACATAGGGCCAATGGATGGCTTTCAGAGGGTTTCATACCCGTG TCCTACTCAATTTAAACCCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	348	0.0029	-472	c.299 others(17): Show c.299-8846_299-8375del	WNT7B	ENSG00000188064.10	transcript	ENST00000339464.9	protein_coding	2/3			chr22	TogoVar
DCDC2_chr6_24166755_24363059	24358727	TTATTTTA others(464): Show TTATTTTATATATATTTTATTTATTTATTTATATATTATATATTTTTATA TATAATATATAAAATATATATTTTATATATTATATATAAATATATATATT ATATTTATATATATATTTATATATTATATATAATATATATAATATATATG TATTATATATATTTATATATATAATATATTATATATTATATATATTATAT ATTATATATTTTATATATTATATATTATATATTATATATTATATATTTTA TACATTATATATTATATATTATATATTTTATATATTATATATTTTATATT TTATATTTTATATATATTATATATTTTATATATCATATATATTATATATC ATATATTTTTATATATTATATATTTTATATATTATATATTATATATATTA TATATTTTATATATATTATATATTTTATATATTTTATATATTTTATATAT ATTTTATATATTTTATATATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0167 a0002c0004t0004g0167	1	216	0.0046	-471	c.-14 others(10): Show c.-1448_-978del	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		669		chr6	TogoVar
DGKB_chr7_14140049_14907751	14211511	TTTTACTC others(464): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGT TTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGA TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTG ATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACT CTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTT TTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGAT TTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0117 a0001c0003t0002g0117	1	113	0.0088	-471	c.212 others(21): Show c.2123-33831_2123-33361del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
LMNTD1_chr12_25471082_25558283	25517086	AGGAACAC others(464): Show AGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGT GGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTT GACCCAGCCTCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGC TGCTATAAAGACACATGCACACATATGTTTATTGCGGCACTATTCACAAT AGCAAAGACTTGGAATCAACCCAAATGTCCAATAATGATAGACTGGATTA AGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAAT GATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCAT TCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATCTTCTCAC TCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAAC ATCACACTCTGGGGACTGTTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(293): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0010 a0001c0015 a0002c0002 a0004c0006 a0005c0008 a0006c0012 a0007c0011 a0008c0013 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0004t0001 a0001c0007t0003 a0001c0007t0004 a0001c0010t0001 a0001c0015t0001 a0002c0002t0001 a0002c0002t0002 a0004c0006t0001 a0005c0008t0001 a0006c0012t0001 a0007c0011t0002 a0008c0013t0003 a0009c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 others(276): Show a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0003g0269 a0001c0001t0004g0239 a0001c0004t0001g0161 a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0007t0003g0171 a0001c0007t0004g0173 a0001c0010t0001g0292 a0001c0015t0001g0172 a0002c0002t0001g0180 a0002c0002t0002g0032 a0004c0006t0001g0274 a0004c0006t0001g0275 a0004c0006t0001g0310 a0005c0008t0001g0240 a0006c0012t0001g0360 a0007c0011t0002g0076 a0008c0013t0003g0170 a0009c0009t0001g0359	296	386	0.7668	-471	c.118 others(19): Show c.1189+1238_1189+1708del	LMNTD1	ENSG00000152936.11	transcript	ENST00000458174.7	protein_coding	8/9			chr12	TogoVar
LY6E_chr8_143013529_143027409	143014919	CCTGTGTG others(464): Show CCTGTGTGAGGAGGAGGGAGTGCCATGTGAGGAGGAGGGAGTCCTGTGTG AGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAG GAGGGAGTCCTGTGTGAGGAGGAGGGAGTCCCATGTGAGGAGGAGGGAGT CCTGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTGCCGTGTG AGGAGGAGGAGGGAGTCCTGTGTGAGGAGGAAGGAGTCCCATGTGAGGAG GAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGG AGTCCTGTGTGAGGAGGAGGGAGTCCTGTGTGAGGGGGAGGGAGTGCCGT GTGAGGGGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTGCCGTGTGAGGAG GAGGGAGTCCCATGTGAGGAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGT GCCGTGTGAGGAGGAGGGAGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG01884.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	376	0.0053	-471	c.-37 others(11): Show c.-3724_-3254del	LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding		3609		chr8	TogoVar
MYO1B_chr2_191240404_191430386	191397848	GGGGCGGC others(464): Show GGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCCGGGCGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCCGGCTGGAGACGGCTAACCCCCCCATCTCCCTCACGGACGG GGCGGATGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCGGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCATCCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTG ACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCACCTCCCTCCTGGGCT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	168	0.0060	-471	c.229 others(19): Show c.2295+1364_2295+1834del	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
OTUD7A_chr15_31470398_31875673	31511066	TATATATG others(464): Show TATATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACACACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATACATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACACAT ATATATGTATATCTATATGTAACACATATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACACATATATGTATATCTA TATGTAACACACACATATATGTATATCTATATGTAACACACACATATATG TATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0017	a0002c0005t0017g0239 a0002c0005t0017g0239	1	240	0.0042	-471	c.894 others(17): Show c.894-7719_894-7249del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511095	TATGTATA others(464): Show TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACACACA TATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATATATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACATAT ATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACACATATATGTATATCTA TATGTAACACACACATATATGTATATCTATATGTAACACACACATATATG TATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01167.hp1 NA18984.hp1 others(2): Show HG00609.hp2 HG01167.hp1 NA18984.hp1 NA19066.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0008 a0001c0001 a0002c0003 a0002c0008	a0001c0001t0004 a0001c0001t0007 a0001c0001t0090 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0090 a0002c0003t0003 a0002c0008t0002	a0001c0001t0004g0166 a0001c0001t0007g0071 a0001c0001t0090g0019 others(2): Show a0001c0001t0004g0166 a0001c0001t0007g0071 a0001c0001t0090g0019 a0002c0003t0003g0139 a0002c0008t0002g0170	5	197	0.0254	-471	c.894 others(17): Show c.894-7748_894-7278del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
SH3RF3_chr2_109124205_109509634	109199333	TGGAATGG others(464): Show TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGATGGAATGGAATGGGATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00639.hp1 others(23): Show HG00438.hp1 HG00544.hp2 HG00639.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01928.hp2 HG02027.hp2 HG02055.hp1 HG02523.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA18964.hp1 NA18975.hp1 NA19002.hp1 NA19009.hp2 NA19011.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0014 a0001c0025 a0001c0026 a0002c0013 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0022 a0001c0001t0044 a0001c0001t0054 a0001c0001t0058 a0001c0003t0059 a0001c0003t0062 a0001c0005t0025 a0001c0005t0070 a0001c0014t0066 a0001c0025t0045 a0001c0026t0005 a0002c0013t0033 a0003c0006t0003	a0001c0001t0001g0054 a0001c0001t0002g0070 a0001c0001t0002g0096 others(23): Show a0001c0001t0001g0054 a0001c0001t0002g0070 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0100 a0001c0001t0005g0024 a0001c0001t0005g0042 a0001c0001t0008g0011 a0001c0001t0011g0091 a0001c0001t0015g0125 a0001c0001t0022g0149 a0001c0001t0044g0023 a0001c0001t0054g0107 a0001c0001t0058g0086 a0001c0003t0059g0068 a0001c0003t0062g0067 a0001c0005t0025g0146 a0001c0005t0070g0097 a0001c0014t0066g0066 a0001c0025t0045g0064 a0001c0026t0005g0055 a0002c0013t0033g0168 a0003c0006t0003g0095	26	65	0.4000	-471	c.573 others(19): Show c.573+69221_573+69691del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9			chr2	TogoVar
SORCS2_chr4_7187538_7747827	7482030	TGCGGACA others(464): Show TGCGGACACCCCTGACGCCGTTCAGACCTGTATCCCCACCGTGGACACCC CTGGCTACTGTTCAGACCTGTATCCCCACTGCGGACACCCCTGACGCTGT TCAGACCTGTATCCCCGCTGCGGACACCCCTGACGCTGTTCAGACCTGTA TCCCCACTGCGGACACCCCTGACGCTGTTCAGACCTGTATCCCCGCTGCG GACACCCCTGACGCTGTTCAGACCTGTATCCCCGCTGCGGACACCCCTGA CGCCGTTCAGACCTGTATCCCCACTGCGGACACCCCTGGCTGCTGTTCAG ACCTGTATCCCCACTGCGGACACCCCTGACGCCGTTCAGACCTGTATCCC CACCGCGGACACCCCTGGCTACTGTTCAGACCTGTATCCCCACTGCGGAC ACCCCTGACGCTGTTCAGACCTGTATCCCCGCTGCGGACACCCCTGACGC TGTTCAGACCTGTATCCCCACC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02056.hp1 HG01106.hp2 HG02056.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0004 a0001c0011 a0002c0004	a0001c0011t0003 a0002c0004t0005 a0001c0011t0003 a0002c0004t0005	a0001c0011t0003g0120 a0002c0004t0005g0083 a0001c0011t0003g0120 a0002c0004t0005g0083	2	168	0.0119	-471	c.549 others(19): Show c.549-49482_549-49012del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7482185	ACTGCGGA others(464): Show ACTGCGGACACCCCTGACGCTGTTCAGACCTGTATCCCCGCTGCGGACAC CCCTGACGCTGTTCAGACCTGTATCCCCGCTGCGGACACCCCTGACGCCG TTCAGACCTGTATCCCCACTGCGGACACCCCTGGCTGCTGTTCAGACCTG TATCCCCACTGCGGACACCCCTGACGCCGTTCAGACCTGTATCCCCACCG CGGACACCCCTGGCTACTGTTCAGACCTGTATCCCCACTGCGGACACCCC TGACGCTGTTCAGACCTGTATCCCCGCTGCGGACACCCCTGACGCTGTTC AGACCTGTATCCCCACCGCGGACACCCCTGACGCTGTTCAGACCTGTATC CCCACTGCGGACACCCCTGACGCTGTTCAGACCTGTATCCCCACTGCGGA CACCCCTGGCTGCTGTTCAGACCTGTATCCCCACTGCGGACACCCCTGAC GCTGTTTAGACCTGTATCCCCG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0032 a0001c0038t0032	a0001c0038t0032g0128 a0001c0038t0032g0128	1	166	0.0060	-471	c.549 others(19): Show c.549-49329_549-48859del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
TCF25_chr16_89868592_89916379	89901755	AAAAAAAA others(464): Show AAAAAAAAAAAAAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGG TGAAATCCCTCCTTAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAG GGTGAAATCCCTCCTTAAGATGGGCCTCCTCCGAGGGGCTGTGAGGGGTG AGGGTGAAATCCCTCCTTAAGACGGGCCTCCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGACTAACACGGTGAAACCACGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTGTTGGCGGGCACCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACATAGTG AGACTCCGTCTCAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02717.hp1 HG02055.hp1 HG02145.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0018 a0001c0004t0002g0069 a0001c0004t0002g0072 a0001c0001t0001g0018 a0001c0004t0002g0069 a0001c0004t0002g0072	3	297	0.0101	-471	c.138 others(18): Show c.1381+975_1381+1445del	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89902227	AAAAAAAA others(464): Show AAAAAAAAAAAAAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAGGG TGAAATCCCTCCTTAAGACGGGCCTCCTCCGAGGGGCTGTGAGGGGTGAG GGTGAAATCCCTCCTTAAGATGGGCCTCCTCCGAGGGGCTGTGAGGGGTG AGGGTGAAATCCCTCCTTAAGACGGGCCTCCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGACTAACACGGTGAAACCACGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTGTTGGCCGGCACCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACATAGCG AGACTCCGTCTCAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18974.hp1 HG01106.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0227 a0001c0001t0001g0168 a0001c0001t0001g0227	2	297	0.0067	-471	c.138 others(19): Show c.1381+1520_1382-1334del	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
B3GNTL1_chr17_82937149_83056770	83022320	CACTGTCC others(463): Show CACTGTCCCCGGCCCACCTGCACCAGCGTGAACTCACGTTAGCTTAGCAC TGTCCCCGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGT CCCCGCCCCACCTGCACCAGCGTGAACTCACATTAGCTTAGCACTGTCCC CGGCCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGG CCCACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCC ACCTGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACC TGCACCAGCGTGAACTCACATGAGCTTAGCACTGTCCCCGGCCCACCTGC ACCAGCGTGAACTCACGTTAGCTTAGCACTGTCCCCGGCCCACCTGCACC AGCGTGAACTCACATGAGCTTAGGACTGTCCCCGGCCCACCTGCACCAGC GTGAACTCACATGAGCTTAGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00733.hp1 HG00735.hp1 others(23): Show HG00408.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01257.hp1 HG01346.hp2 HG01496.hp2 HG02132.hp1 HG02155.hp1 HG02572.hp1 HG02683.hp1 HG02896.hp2 HG06807.hp2 NA18612.hp1 NA18945.hp1 NA18966.hp2 NA18973.hp1 NA18983.hp2 NA18999.hp2 NA19007.hp1 NA19064.hp2 NA19070.hp1 NA19083.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0016 others(2): Show a0001c0004 a0001c0006 a0001c0016 a0002c0005 a0002c0015	a0001c0004t0001 a0001c0004t0002 a0001c0004t0026 others(10): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0026 a0001c0004t0031 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0010 a0001c0006t0011 a0001c0006t0033 a0001c0016t0001 a0002c0005t0003 a0002c0015t0003	a0001c0004t0001g0002 a0001c0004t0001g0022 a0001c0004t0001g0027 others(22): Show a0001c0004t0001g0002 a0001c0004t0001g0022 a0001c0004t0001g0027 a0001c0004t0001g0033 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0040 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0002g0051 a0001c0004t0026g0048 a0001c0004t0031g0036 a0001c0006t0001g0023 a0001c0006t0002g0032 a0001c0006t0002g0041 a0001c0006t0006g0007 a0001c0006t0006g0025 a0001c0006t0006g0039 a0001c0006t0010g0011 a0001c0006t0011g0028 a0001c0006t0033g0046 a0001c0016t0001g0009 a0001c0016t0001g0010 a0002c0005t0003g0174 a0002c0015t0003g0024	26	266	0.0977	-470	c.298 others(17): Show c.298-8271_298-7802del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
C7orf50_chr7_992006_1143247	1128648	CGGGCTGG others(463): Show CGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGG CTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCCTGTCACCCGGGCT GGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGTCACCCGGGCTGG AGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAG TGCAGTGGCACGATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGCA GTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGT GGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGG CACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCC ATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCCATCT CGGCTCATCCCACCGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19030.hp2 HG02109.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0316 a0001c0001t0015g0317 a0001c0001t0015g0316 a0001c0001t0015g0317	2	323	0.0062	-470	c.-1- others(15): Show c.-1-1732_-1-1263del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128683	CCACCGTC others(463): Show CCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCAC CCTGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCC TGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTG TCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCAC CCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCC GGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGG GCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCATCACCCGGGCTGGAGT GCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCTGGGCTGGAGTGCAG TGGCGCGATCTCAGCTCATCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02970.hp1 HG03195.hp2 others(3): Show HG01081.hp2 HG02970.hp1 HG03195.hp2 HG03486.hp1 NA18998.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 a0001c0001t0001 a0001c0001t0003 a0002c0002t0003	a0001c0001t0001g0069 a0001c0001t0003g0206 a0002c0002t0003g0312 others(3): Show a0001c0001t0001g0069 a0001c0001t0003g0206 a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0003g0319 a0002c0002t0003g0320	6	273	0.0220	-470	c.-1- others(15): Show c.-1-1767_-1-1298del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CACNA2D4_chr12_1786963_1923652	1921487	CCACAGCC others(463): Show CCACAGCCACGAGGCCCTACCTGGCTGGAGCTGGCTTGATTTTAAAAATC ATTCCAAATTACAAATTTTAAGAAGCTGATGAATGCCACCAAATTCACAG CCACGAGGCCCCACCTGGCTGGAGCTGGCTTGATTTTAAAAATCATTCCA AATTACAAATTTTAAGAAGCTGATGAATGCCACCAAATTCACAGCCACGA GGCCCCACCTGGCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTAC AAATTTTAAGAAGCTGATGAATGCCACCAAATTCACAGCCACGAGGCCCC ACCTGGCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATTT TAAGAAGCTGATGAATGCCACCAAATTCACAGCCACGAGGCCCCACCTGG CTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATTTTAAGAA GCTGATGAATGCCACCAAATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03688.hp2 HG02109.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0115 a0001c0002t0001g0206 a0001c0001t0003g0115 a0001c0002t0001g0206	2	166	0.0120	-470	c.-34 others(11): Show c.-3484_-3015del	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding		2836		chr12	TogoVar
CACNA2D4_chr12_1786963_1923652	1921504	TACCTGGC others(463): Show TACCTGGCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATT TTAAGAAGCTGATGAATGCCACCAAATTCACAGCCACGAGGCCCCACCTG GCTGGAGCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATTTTAAGA AGCTGATGAATGCCACCAAATTCACAGCCACGAGGCCCCACCTGGCTGGA GCTGGCTTGATTTTAAAAATCATTCCAAATTACAAATTTTAAGAAGCTGA TGAATGCCACCAAATTCACAGCCACGAGGCCCCACCTGGCTGGAGCTGGC TTGATTTTAAAAATCATTCCAAATTACAAATTTTAAGAAGCTGATGAATG CCACCAAATTCACAGCCACGAGGCCCCACCTGGCTGGAGCTGGCTTGATT TTAAAAATCATTCCAAATTACAAATTTTAAGAAGCTGATGAATGCCACCA AATTCACAGCCACGAGGCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG04204.hp1 others(5): Show HG01496.hp2 HG01891.hp2 HG04204.hp1 NA18939.hp1 NA18945.hp1 NA18947.hp1 NA19010.hp2 NA19062.hp2	a0001 a0010 a0001 a0010	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0010 a0010c0032	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(4): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0005t0003 a0001c0007t0001 a0001c0010t0001 a0010c0032t0001	a0001c0002t0001g0214 a0001c0003t0001g0059 a0001c0003t0002g0060 others(5): Show a0001c0002t0001g0214 a0001c0003t0001g0059 a0001c0003t0002g0060 a0001c0003t0002g0061 a0001c0005t0003g0137 a0001c0007t0001g0132 a0001c0010t0001g0062 a0010c0032t0001g0156	8	174	0.0460	-470	c.-35 others(11): Show c.-3501_-3032del	CACNA2D4	ENSG00000151062.15	transcript	ENST00000382722.10	protein_coding		2853		chr12	TogoVar
DPH7_chr9_137549444_137583925	137567248	TGGGTGAC others(463): Show TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTC TGTCCGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	300	0.0033	-470	c.641 others(17): Show c.641-2564_641-2095del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERC1_chr12_986223_1500931	1079430	CGATATAC others(463): Show CGATATACAGAGATACAGATAGAAATGATTTGTAATATGACAAAAGTCGA TATACAGAGATACAGATAGAAATGATTTGTAATATGACAAAAGTCGATAT ACAGAGATACAGATAGAAATGATTTGTAATATGACAAAAGTCGATATACA GAGATACAGATAGAAATGATTTGTAATATGACAAAAGTCGATATACAGAG ATACAGATAGAAATGATTTGTAATATGACAAAAGTCGATATACAGAGATA CAGATAGAAATGATTTGTAATATGACAAAAGTCGATATACAGAGATATAG ACAGAAATGATTTGTAATATGACAAAAGTCGATATACAGAGATACAGATA GAAATGATTTGTAATATGACAAAAGTCGATATACAGAGATACAGATAGAA ATGATTTGTAATATGACAAAAGTCGATATACAGAGATACAGATAGAAATG ATTTGTAATATGACAAAAGTT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0156 a0001c0001t0043g0156	1	160	0.0063	-470	c.670 others(17): Show c.670-3725_670-3256del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121901	ATCTCTAT others(463): Show ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTATCTCTATCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTATCTCTATCTCTATCTCTATCTATCTCTATCTCTATCTAT CTATCTCTATCTCTATCTCTATATCTCTATCTCTATCTGTGTCTCTATCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTAT CTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTAT CTCTATCTCTATCTCTATCTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01261.hp1 others(7): Show HG00323.hp2 HG00639.hp1 HG01261.hp1 HG01993.hp2 HG02615.hp1 HG02622.hp2 NA18966.hp2 NA18982.hp2 NA19090.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0027 a0001c0001t0030 a0001c0001t0081	a0001c0001t0005g0118 a0001c0001t0005g0161 a0001c0001t0005g0162 others(7): Show a0001c0001t0005g0118 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0006g0113 a0001c0001t0006g0116 a0001c0001t0006g0120 a0001c0001t0012g0112 a0001c0001t0027g0103 a0001c0001t0030g0159 a0001c0001t0081g0102	10	152	0.0658	-470	c.156 others(19): Show c.1569+5870_1569+6339del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
KNDC1_chr10_133155219_133231412	133222716	TGTGTGTG others(463): Show TGTGTGTGCATGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGCG TGTGCGTGAGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTGTGTGTGTG AGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGTGAGAG CCCATCCAGCCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCA GGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCT CTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGG CGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTG TGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTG AGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCA TCCAGGCATGCTCTTCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0002 a0002c0043t0002	a0002c0043t0002g0066 a0002c0043t0002g0066	1	326	0.0031	-470	c.501 others(19): Show c.5019-1935_5019-1466del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	953515	CCCAAACC others(463): Show CCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCT ACATATCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGAC ACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAG CCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGT CCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACAC CCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACC AGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAC GTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCC ACCCCAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCAG CCTCCTACATGTCCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02602.hp2 HG03239.hp2 others(1): Show HG01175.hp1 HG02602.hp2 HG03239.hp2 NA19011.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0021c0064 a0001c0001 a0021c0064	a0001c0001t0001 a0021c0064t0001 a0001c0001t0001 a0021c0064t0001	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 others(1): Show a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0021c0064t0001g0202	4	276	0.0145	-470	c.503 others(15): Show c.503+372_503+841del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMNTD1_chr12_25471082_25558283	25517087	GGAACACT others(463): Show GGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTG GAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTG ACCCAGCCTCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCT GCTATAAAGACACATGCACACATATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAATCAACCCAAATGTCCAATAATGATAGACTGGATTAA GAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATCTTCTCACT CATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACA TCACACTCTGGGGACTGTTGT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03927.hp2 HG01261.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0245 a0001c0001t0002g0071 a0001c0001t0001g0245 a0001c0001t0002g0071	2	386	0.0052	-470	c.118 others(19): Show c.1189+1238_1189+1707del	LMNTD1	ENSG00000152936.11	transcript	ENST00000458174.7	protein_coding	8/9			chr12	TogoVar
PCMT1_chr6_149744741_149816419	149762739	ATATATAT others(463): Show ATATATATCTATGATATATATACCTATGATATATATATACCTATGATATA TATACCTATGATATATATATCTATGATAATCTATGATATATATGATATAT ATATCTATGATATATATCTATGATATATATATCTATGATATATATGTTAT ATATATCTATGATATATATCTATGATATATATATCTATGATATATATGAT ATATATATCTATGATATGTATATCTATGATATATATGATATATATATCTA TGATATATATGATATATATATCTATGATATATATGATATATCTATGATAT CTATGATATGTATATCTATGATATATATATCTATGATATGTATATCTATG ATATATATGATATATATATCTATGATATGTATATCTATGATATATATGAT ATATATATCTATGATATATATCTATGATATCTATGATATATATCTATGAT ATCTATGATATATATATCTAT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19060.hp1 NA18962.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0296 a0001c0001t0001g0272 a0001c0001t0001g0296	2	332	0.0060	-470	c.56- others(15): Show c.56-8422_56-7953del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7			chr6	TogoVar
SVIL_chr10_29452338_29639971	29629592	GTATGTGC others(463): Show GTATGTGCCCAAGCTTGGGCAAGCATTTCTAACCCTCAGTTTTTTCCTCA GTAGAATGAAGACAATTGCACTAATATTTCTTGGGGGCTACTGTAAAAAT TAGAGTCCGGGCGTGGTGGCTCACACCTGTAATCCCAGTGCCTTGAGAGG CCTTAATGGGAGGATAGCTTGAGGCCAGGAGCTCAAGACCAGCCTGAGCA ACATAGTGAGACCCCTGCCTCTAGAATTTTTTTTTTTAATTAGCTGGGCA TAGTAGTGATTGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGAAGGAGG AATGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAACCATGGTCATGCCAT TGCATTCCAACCTGGGTGACCAGGCAAGACTGTCTCAAAAAATAAAAATA ATTAAGTGATATATTGTAGAGGTAAAGAGTGTGGCATTAAGTCTGGCACA CAGTAATAATGGATGGCATGT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00735.hp2 others(22): Show HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG03669.hp1 HG04204.hp2 NA20129.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0008 a0029	a0001c0002 a0001c0004 a0001c0021 others(8): Show a0001c0002 a0001c0004 a0001c0021 a0001c0034 a0001c0035 a0004c0017 a0004c0052 a0005c0003 a0005c0091 a0008c0009 a0029c0051	a0001c0002t0001 a0001c0004t0001 a0001c0021t0001 others(8): Show a0001c0002t0001 a0001c0004t0001 a0001c0021t0001 a0001c0034t0003 a0001c0035t0001 a0004c0017t0001 a0004c0052t0001 a0005c0003t0002 a0005c0091t0007 a0008c0009t0001 a0029c0051t0001	a0001c0002t0001g0027 a0001c0002t0001g0033 a0001c0002t0001g0039 others(22): Show a0001c0002t0001g0027 a0001c0002t0001g0033 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0004t0001g0029 a0001c0004t0001g0031 a0001c0004t0001g0034 a0001c0004t0001g0038 a0001c0021t0001g0087 a0001c0034t0003g0030 a0001c0035t0001g0043 a0004c0017t0001g0085 a0004c0052t0001g0026 a0005c0003t0002g0028 a0005c0003t0002g0032 a0005c0003t0002g0035 a0005c0003t0002g0036 a0005c0003t0002g0044 a0005c0003t0002g0084 a0005c0003t0002g0086 a0005c0091t0007g0002 a0008c0009t0001g0045 a0029c0051t0001g0037	25	288	0.0868	-470	c.-20 others(19): Show c.-201+4358_-201+4827del	SVIL	ENSG00000197321.16	transcript	ENST00000355867.9	protein_coding	1/37			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291288	TGTGTCCC others(463): Show TGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCC GTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTC CCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCC CCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGG AGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATG TCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCT ACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTC CGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGT ACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTC CCCGTGTCCCTCCGTGTCCCC	T T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18971.hp2 NA18939.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0193 a0001c0001t0001g0183 a0001c0001t0001g0193	2	187	0.0107	-470	c.121 others(18): Show c.1214+741_1214+1210del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TWIST2_chr2_238843085_238915534	238880303	TAGTGTTA others(463): Show TAGTGTTAGTGTTGGTATTTATTATTATTAGTGTTAGTGTCAGTATTAGT GTTAGTATTTATTTGTGTTAGCATTAGTATTAATGTTAGTGTTAGTATTT ATTAGTGTTAGTGTTGGTAATATTTATTAGCATTAGTGTTAGTGTTAGTA TTTATTAGTATTAGTTACTATTTATTAGTGTCAGTGTTAGTGTTAGTGTC AGCATTAGTATTAGTGTGTTAGTATTGGTATTAGTGTTAGTGTTAGTATT TATTAGTATTAGTATTACTGTTAGTATTAGTATTAGTGTTATGTTAGTAT TAGTGTTAGTATTTATTAGTATTAGTGTTACTGTTAGTCTTAGTGTTAGT GTCAGTATTAGTATTAGTGTTAGTGTCAGTATTAGTGTATTTATTAGTGT TAGCATTAGTATTAATGTTAGTATCTATTAGTATTAGTGTTAGTGTTGGT GTTAATATTAGCATTAGTGTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp1 others(70): Show HG00099.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00741.hp2 HG01109.hp2 HG01167.hp2 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02293.hp1 HG02523.hp2 HG03239.hp2 HG03490.hp1 HG03710.hp1 HG03942.hp2 HG04115.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18993.hp2 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0026 others(69): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0200 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0252 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0002g0002 a0001c0001t0002g0020 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0055 a0001c0001t0002g0065 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0109 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0146 a0001c0001t0002g0158 a0001c0001t0002g0294	73	336	0.2173	-470	c.36 others(19): Show c.36-29529_*36-29060del	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VIPR2_chr7_159023175_159149867	159090043	ACAATCCC others(463): Show ACAATCCCCGGTGACCTCAGCACAGACACGCTGGGACCACACACAGGGGC CACCTCTTGTGACCATCACAATCCCCGGTGACCTCAGCACAGACACGCTG GGACCACACACAGGGGCCACCTCTTATGACCATCACAATCCCCAGTGCCC TCAGCAGAGACACACTGGGATCACGCACAGGGGCCACCTCTTGTGACTAT CACAATCCCCAGTGACCTCAGCACAGACATGCTGGGACCACGCACAGGGG CCACCTCCTGCGACCACTGCAATCCCCAGTGACCTCGGCACAGACACGCT GGGACCCACGCACAGGGGCCACCTCTTGTGACCATCACAATCCCCGGTGA CCTCAGCAGAGACACACTGGGATCACGCACAGGGGCCACCTATTGTGACT ATCACAATCCCCGGTGACCTCAGCACAGACACGCTGGGATCACGCACAGG GGCCACCTCCTGCGACCATTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp1 HG02818.hp1 others(4): Show HG02055.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG03209.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0015 a0001c0016 a0001c0008 a0001c0015 a0001c0016	a0001c0008t0016 a0001c0008t0018 a0001c0015t0011 others(2): Show a0001c0008t0016 a0001c0008t0018 a0001c0015t0011 a0001c0015t0016 a0001c0016t0050	a0001c0008t0016g0320 a0001c0008t0016g0321 a0001c0008t0018g0002 others(3): Show a0001c0008t0016g0320 a0001c0008t0016g0321 a0001c0008t0018g0002 a0001c0015t0011g0028 a0001c0015t0016g0007 a0001c0016t0050g0125	7	334	0.0210	-470	c.357 others(19): Show c.357+13244_357+13713del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159090156	GGGCCACC others(463): Show GGGCCACCTCTTATGACCATCACAATCCCCAGTGCCCTCAGCAGAGACAC ACTGGGATCACGCACAGGGGCCACCTCTTGTGACTATCACAATCCCCAGT GACCTCAGCACAGACATGCTGGGACCACGCACAGGGGCCACCTCCTGCGA CCACTGCAATCCCCAGTGACCTCGGCACAGACACGCTGGGACCCACGCAC AGGGGCCACCTCTTGTGACCATCACAATCCCCGGTGACCTCAGCAGAGAC ACACTGGGATCACGCACAGGGGCCACCTATTGTGACTATCACAATCCCCG GTGACCTCAGCACAGACACGCTGGGATCACGCACAGGGGCCACCTCCTGC GACCATTGCAATCCCCGGTGACCTCAGCACAGACACGCTGGGACCACGCA CAGGGGCCACCTCTTGTGACCATCACAATCCCCGGTGACCTCAGCACAGA CACGCTGGGACCACACACAGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0059 a0001c0005t0059	a0001c0005t0059g0326 a0001c0005t0059g0326	1	325	0.0031	-470	c.357 others(19): Show c.357+13131_357+13600del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
ZNF516_chr18_76352682_76500242	76393121	AGGTGGTC others(463): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	336	0.0030	-470	c.181 others(21): Show c.1811-13288_1811-12819del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393416	GGGGAAGG others(463): Show GGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTG GGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0021 a0005c0008t0021	a0005c0008t0021g0141 a0005c0008t0021g0141	1	334	0.0030	-470	c.181 others(21): Show c.1811-13583_1811-13114del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ARHGEF10_chr8_1818926_1963641	1888930	GGGGTCTG others(462): Show GGGGTCTGTGACGAGACACTGAGTGGGGTGAGGGGTCTGCGAGGAGACAC TGAGGTGTGAGGGGTCTACAAGGAGTCACGGAGTGCAGTGAGAGTTGTGA GGAAACATGGAGTGGGGTGCGGGTCATGAGGAGACAGTGATTGGGGTGAG GGGTCCGTGAGGAGACACTGAGTGGGGTGTGAGGGGTCTGTGAGGAGACA CTGTGAGTGGGGTGAGGGTTGTGAGGAGACGCTGAGTTGGGGGGTTGTGA GGAGAGCGTGGGGTGAGGTTTATTAGGAGACACTGAATGGGGTGAGGGTT GTGAGGAGACATTGAGTGGGATGAGAGGTGTGAGGAGACACTGAATGTGG TGAGGGTTTGTGAGGAGATACTGCATGGGGTGAGCTTTCTTAGGAGACAC TGAGTGGGTAAGAGTTGTGAGGAGACACTGAGTGGGGTGAGGGGTATGTG AGGAGACAGTGATGTGAGGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG02683.hp2 others(2): Show HG01243.hp1 HG01255.hp1 HG02683.hp2 HG04204.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0035 a0001c0001 a0001c0003 a0001c0035	a0001c0001t0005 a0001c0003t0007 a0001c0003t0009 others(2): Show a0001c0001t0005 a0001c0003t0007 a0001c0003t0009 a0001c0003t0026 a0001c0035t0024	a0001c0001t0005g0150 a0001c0003t0007g0169 a0001c0003t0009g0282 others(2): Show a0001c0001t0005g0150 a0001c0003t0007g0169 a0001c0003t0009g0282 a0001c0003t0026g0268 a0001c0035t0024g0078	5	362	0.0138	-469	c.118 others(19): Show c.1182+3224_1182+3692del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28			chr8	TogoVar
CLIC4_chr1_24740447_24849321	24799776	TGCCCCGT others(462): Show TGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGGGGGGGGGT CAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCTG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGGGGGGGGGTCA GCCCCCCCACCTGGCCAGCC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0114 a0001c0001t0019g0114	1	341	0.0029	-469	c.182 others(17): Show c.182+2031_182+2499del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC25_chr9_111626334_111659345	111640884	TGGGGGGT others(462): Show TGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCGTCCGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCGCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCAGCCTGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGG TCAGCCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCCCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp2 HG00738.hp2 others(28): Show HG00558.hp2 HG00733.hp2 HG00738.hp2 HG01074.hp2 HG01123.hp2 HG02027.hp2 HG02080.hp1 HG02135.hp1 HG02602.hp2 HG02738.hp2 HG03239.hp1 HG03491.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18966.hp1 NA18971.hp2 NA18984.hp2 NA18990.hp2 NA18995.hp2 NA19007.hp2 NA19062.hp2 NA19065.hp2 NA19070.hp1 NA19088.hp1 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0007 a0001c0001 a0002c0005 a0003c0007	a0001c0001t0001 a0001c0001t0010 a0002c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0010 a0002c0005t0001 a0003c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0027 others(18): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0055 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0010g0029 a0002c0005t0001g0256 a0002c0005t0001g0257 a0003c0007t0001g0018 a0003c0007t0001g0205	31	397	0.0781	-469	c.337 others(17): Show c.337-6206_337-5738del	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
EXOC3L4_chr14_103089725_103115559	103109168	TCCCCCGG others(462): Show TCCCCCGGTCTCCCTCTCTCCCTCGCCACCCTGTCCCCATGTCTCCCTCC CTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTC CACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCA TGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTC CCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCT CTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCC CCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCC TCCCTCCCTCTCCACCCTGC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA20129.hp2 HG03453.hp1 NA20129.hp2	a0003 a0032 a0003 a0032	a0003c0007 a0032c0054 a0003c0007 a0032c0054	a0003c0007t0001 a0032c0054t0001 a0003c0007t0001 a0032c0054t0001	a0003c0007t0001g0063 a0032c0054t0001g0059 a0003c0007t0001g0063 a0032c0054t0001g0059	2	401	0.0050	-469	c.197 others(17): Show c.1976+656_1977-390del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
IDI1_chr10_1034419_1054119	1047101	CTGTCTAC others(462): Show CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACTG TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTGGTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG01081.hp1 others(32): Show HG00408.hp2 HG00621.hp2 HG01081.hp1 HG01516.hp2 HG01975.hp2 HG02015.hp1 HG02083.hp2 HG02132.hp2 HG02559.hp2 HG02602.hp2 HG02976.hp1 HG03017.hp1 HG03490.hp2 HG03492.hp2 HG04228.hp1 HG06807.hp1 NA18940.hp1 NA18944.hp1 NA18947.hp1 NA18951.hp2 NA18957.hp2 NA18969.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18994.hp2 NA19005.hp2 NA19007.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19082.hp1 NA19089.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0002 a0001c0001t0002g0031 a0001c0001t0002g0038 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0068 a0002c0002t0002g0019	35	436	0.0803	-469	c.140 others(17): Show c.140+1294_140+1762del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
PRKN_chr6_161342417_162732766	161730146	TTTCTGAT others(462): Show TTTCTGATGTGTTGCATTCTTTCTGATGTGTTGCATTCTGATGTGTTGCA TTCTTTCTGTGTTGCATTCTGATGTGTTGCATTCTTTCTGATATGTTGCA GTCTGATGTGTTGCCCTCTGATATGTTGCATTCTTTCAGATATGTTGCAT TCTGATGTGTTGTATTCTTTCTGGTGTGTTGCATTCTGAAGTGTTGCATT CTTTCTGATATGTTGCATTCTGATGTGTTGCATTCTTTCAGATATGTTGC ATTCTGACGTGCTGCATTCTTTCTGATATGTTGCATTCTGATGTGTTGCA TTCTTTTTGATGTGTTCCATTCTGATGTGTTGCATTCTTTCTGATATGTT GCAGTCTGATGTGTTGCATTCTGAAGTGTTGCATTCTTTCTGATGTGTTG CATTCTGATATGTTGCATTCTTTCTGATGTGTTGCATTCTGATGTGTTGC ATTCTTTCTGATACATCACA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	32	0.0313	-469	c.871 others(19): Show c.871+55157_871+55625del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRPF6_chr20_63976132_64038100	64012105	TCTTTCTT others(462): Show TCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGT CTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGG ACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTAC GAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGA TACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAG TAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTT CTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCAC GGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGG AAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAG GAGGACAGGAAGTCTCACGG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02451.hp1 HG02630.hp2 others(8): Show HG01255.hp2 HG02451.hp1 HG02630.hp2 HG02809.hp2 HG02976.hp1 HG03098.hp1 HG03453.hp1 HG03540.hp1 HG06807.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0242 a0001c0001t0001g0243 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253	11	292	0.0377	-469	c.152 others(18): Show c.1524+892_1524+1360del	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRPF6_chr20_63976132_64038100	64012395	CGGCTTCT others(462): Show CGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAG GAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGA GGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACA CCTACGAGAGGAGGACAGGAAGTCTCACGGCTTTCTTTGCTAGTAGAAAT GATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCTTTCTTTGCT AGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTCACGGCTTCT TTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACAGGAAGTCTC ACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAGAGGAGGACA GGAAGTCTCACGGCTTCTTTCTTTGCTAGTAGAAATGATACACCTACGAG AGGAGGACAGGAAGTCTCAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	292	0.0034	-469	c.152 others(18): Show c.1524+951_1524+1419del	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
RPH3AL_chr17_207389_357807	254044	CGCATGGC others(462): Show CGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAG CCGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTC CTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATATGACTACCCTACG TACTTCCTATGAGGGGAGCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02895.hp1 NA18983.hp1 others(1): Show HG00408.hp1 HG02895.hp1 NA18983.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0002c0012t0005	a0001c0001t0001g0110 a0001c0001t0003g0080 a0001c0001t0012g0005 others(1): Show a0001c0001t0001g0110 a0001c0001t0003g0080 a0001c0001t0012g0005 a0002c0012t0005g0020	4	119	0.0336	-469	c.439 others(17): Show c.439-7228_439-6760del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255026	TACGTACT others(462): Show TACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCC TAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCGT CTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGA GGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACC CTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCC CTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCATGGCG TCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATG AGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTAC CCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATC CCTAGGAATGTGACTACCCA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0018 a0001c0001t0034g0018	1	131	0.0076	-469	c.439 others(17): Show c.439-8210_439-7742del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256489	TGTGACTA others(462): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TGTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02074.hp1 NA18959.hp2 HG00280.hp2 HG02074.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0001 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0065 a0001c0001t0011g0007 a0001c0001t0012g0053 a0001c0001t0001g0065 a0001c0001t0011g0007 a0001c0001t0012g0053	3	79	0.0380	-469	c.439 others(17): Show c.439-9673_439-9205del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257427	CGTGACTA others(462): Show CGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGTGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGT CCTGTTCTGTCCCTAGGAAT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18999.hp2 HG01978.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0039 a0001c0001t0014g0023 a0001c0001t0004g0039 a0001c0001t0014g0023	2	102	0.0196	-469	c.439 others(19): Show c.439-10611_439-10143del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar

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