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
SULT4A1_chr22_43819509_43867513	43834369	GGCCCTGA others(441): Show GGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCAGCCA CACCGCGGCCCTGTGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCG CGCCCCCACCGCGGCCCTGAGCTTCCCACGCCCCCACCGCGGCCCTGAGC TTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCAGCCACACCGCGGCC CTGAGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACC GCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCC CCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCC CGCACCCACACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGTCCCTGT GCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0092	1	384	0.0026	-448	c.509 others(16): Show c.509-1083_509-636del	SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6			chr22	TogoVar
THEG_chr19_356747_381026	361272	GTTTGACT others(441): Show GTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGC AGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCC CGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCC TACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGTTTGACT GTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGT CGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCC CTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGA CGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGT CGTTCCGACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCGTCAGCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0205 a0001c0001t0038g0205	1	345	0.0029	-448	c.48 others(9): Show c.480_*927del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		474		chr19	TogoVar
ZNF512B_chr20_63951704_63974930	63965670	TGACCTGG others(441): Show TGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCCGAC CTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCCGACCTGG GACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCCGACCTGGGACG AGCCCCCATACCTTTTCTTACCACTGTTCCCCGACCTGGGACGAGCCCCC ATACCTTTTCTCACCACTGTTCCCTGACCTGGGACGAGCCCCCATACCTT TTCTTACCACTGTTCCCTGACCTGGGACGAGCCCCCATACCTTTTCTCAC CACTGTTCCTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACT GTTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTC CCTGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	343	0.0029	-448	c.103 others(16): Show c.1034+23_1034+470del	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
ZNF516_chr18_76352682_76500242	76392807	GGGGAAAG others(441): Show GGGGAAAGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCA GGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0148 a0002c0053t0148	a0002c0053t0148g0006 a0002c0053t0148g0006	1	337	0.0030	-448	c.181 others(21): Show c.1811-12952_1811-12505del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABR_chr17_998519_1184981	1131493	CTTTGCAC others(440): Show CTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCTCTTTG CACACCAAATGCAGTGCCTGCCACGCACACAGCTCCCCCCTTTGCACACC AAATGCAGTGCCTGACACGCACACAGCTCCCCCCTTTGCACACCAAATGC AGTGCCTGACACGCACACAGCTCCCCCTTTGCACACCAAATGCAGTGCCT GCCACGCGCACAGCTCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACG CGCAGAGCTCCCCCCTCTTTGCACACCAAATGCAGTGCCTGCCACGCGCA CAGCTCCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCT CCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCC CTCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00544.hp1 others(63): Show HG00140.hp1 HG00408.hp1 HG00544.hp1 HG00673.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03654.hp1 HG04184.hp1 NA18940.hp2 NA18948.hp2 NA18971.hp1 NA18971.hp2 NA18982.hp1 NA18984.hp1 NA18995.hp2 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19090.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0032 a0001c0001t0049 a0001c0001t0056 a0001c0001t0057 a0001c0001t0062 a0001c0001t0068 a0001c0001t0071 a0001c0001t0073 a0001c0001t0075 a0001c0001t0081 a0001c0001t0086 a0001c0002t0001 a0001c0002t0002 a0001c0010t0001	a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0067 others(63): Show a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0002g0083 a0001c0001t0002g0113 a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0002g0171 a0001c0001t0002g0183 a0001c0001t0002g0191 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0003g0116 a0001c0001t0003g0129 a0001c0001t0003g0167 a0001c0001t0003g0201 a0001c0001t0003g0220 a0001c0001t0004g0252 a0001c0001t0004g0299 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0005g0255 a0001c0001t0005g0319 a0001c0001t0006g0141 a0001c0001t0006g0207 a0001c0001t0007g0250 a0001c0001t0007g0326 a0001c0001t0008g0041 a0001c0001t0009g0022 a0001c0001t0009g0049 a0001c0001t0015g0266 a0001c0001t0015g0293 a0001c0001t0019g0056 a0001c0001t0019g0212 a0001c0001t0020g0160 a0001c0001t0022g0030 a0001c0001t0032g0304 a0001c0001t0049g0197 a0001c0001t0056g0175 a0001c0001t0057g0074 a0001c0001t0062g0190 a0001c0001t0068g0152 a0001c0001t0071g0176 a0001c0001t0073g0114 a0001c0001t0075g0172 a0001c0001t0081g0303 a0001c0001t0086g0312 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0163 a0001c0002t0001g0206 a0001c0002t0002g0154 a0001c0002t0002g0173 a0001c0010t0001g0138	66	259	0.2548	-447	c.62- others(15): Show c.62-6573_62-6127del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACOT13_chr6_24662077_24710046	24668057	CGCCACCA others(440): Show CGCCACCATGCCCAGCTAATATTGTACTTTTAGTAGAGACAGGGTTTCTC CATGTTGGTCAGGCTGCTCTCGAACTCCCGACCTCAGGTGAAACGCCTGC CTCCGCCTCCCAAAGTGCTGGGATTACTGGTGTGAGCCGCCACGCCAGAC CTTGAAGGTGTTTGTTGTTGTTGTTGTTTTGAGATGGAGTCTTGCTCTGT TGCCCATGCGGGAGTGCAGTGACACGATCTCGGCTCACTGCAACCTCCGC CTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTTCCAAGTAGCTGGGAT GATTACAGGCATGCGCCACCAAGCCTGGCTAATTCTTTATTTTTATTAGA GACAGGGTTTCATCATGTTGGTCAGGCTGGTCTCAAACTGCTGACCTCAG GTGATCCACCTGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGCATGA	C C	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0256 a0001c0001t0023g0256	1	400	0.0025	-447	c.81+ others(14): Show c.81+726_81+1172del	ACOT13	ENSG00000112304.11	transcript	ENST00000230048.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC127_chr5_191868_223153	211481	TGCACACT others(440): Show TGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGGG CAGACGGGACAGCAGTGTGAGCACACTGATGCTCGACATCGCACACTGCA GCCACGACGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACA GCAGTGTGAGCACACTGATGCTCGACATCGCACACTGCAGCCACGACGAG ACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGC ACGCTGATGCTCGACATCGCACACTGCAGCCACGATGAGACAGCACCACA CACCCATCAGGATGGGGCAGACGGGACAGCAATGTGAGCACGCTGAGATG CTCGACATCGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCA GGATGGGGCAGACGGGACAGCAGTGTGAGCACACTGATGCTCGACATC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03669.hp1 HG02818.hp2 HG03669.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0162 a0006c0005t0151 a0001c0001t0162 a0006c0005t0151	a0001c0001t0162g0098 a0006c0005t0151g0070 a0001c0001t0162g0098 a0006c0005t0151g0070	2	398	0.0050	-447	c.121 others(17): Show c.121+4801_121+5247del	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCDC77_chr12_396644_447642	419504	CTGTGTGT others(440): Show CTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCT CCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGG GTAAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTG TGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCC ATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT AAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCAT GTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA AATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00609.hp2 others(150): Show HG00280.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0002c0002 a0002c0009 others(4): Show a0001c0001 a0002c0002 a0002c0009 a0003c0003 a0004c0004 a0004c0012 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0009t0001 a0003c0003t0002 a0003c0003t0003 a0004c0004t0001 a0004c0012t0001 a0010c0010t0003	a0001c0001t0001g0396 a0001c0001t0002g0004 a0001c0001t0002g0041 others(144): Show a0001c0001t0001g0396 a0001c0001t0002g0004 a0001c0001t0002g0041 a0001c0001t0002g0049 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0099 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0239 a0001c0001t0004g0357 a0001c0001t0004g0384 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0050 a0002c0002t0001g0053 a0002c0002t0001g0079 a0002c0002t0001g0090 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0141 a0002c0002t0001g0149 a0002c0002t0001g0154 a0002c0002t0001g0158 a0002c0002t0001g0163 a0002c0002t0001g0169 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0243 a0002c0002t0001g0252 a0002c0002t0001g0276 a0002c0002t0001g0282 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0303 a0002c0002t0001g0306 a0002c0002t0001g0314 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0330 a0002c0002t0001g0334 a0002c0002t0001g0355 a0002c0002t0001g0360 a0002c0002t0001g0370 a0002c0002t0001g0371 a0002c0009t0001g0404 a0003c0003t0002g0068 a0003c0003t0002g0081 a0003c0003t0003g0065 a0004c0004t0001g0007 a0004c0004t0001g0067 a0004c0004t0001g0072 a0004c0004t0001g0073 a0004c0004t0001g0139 a0004c0004t0001g0142 a0004c0004t0001g0240 a0004c0004t0001g0273 a0004c0004t0001g0304 a0004c0004t0001g0356 a0004c0004t0001g0373 a0004c0012t0001g0414 a0010c0010t0003g0076	153	370	0.4135	-447	c.413 others(16): Show c.413+877_413+1323del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDH4_chr20_61247261_61945617	61944677	TGAGCATT others(440): Show TGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTTCTCACCGACGACGA GGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGA GGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGA GGAGCACTGCGACCATCTGCACCGTGGCCGCCCCTTCTCACTGACGATGA GGAGCACTGCGACTGTCTGCACCGTGGCCGCCCCTTCTCACCGACGACGA GGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGA GGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTTCTCACCAACGATGA GGAGCACTGCGACTGTCTGCACCGTGGCCGCCCCTTCTCACCGACGATGA GGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTTCTCACCGACGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01978.hp1 HG02040.hp2 others(2): Show HG00408.hp1 HG01978.hp1 HG02040.hp2 HG04204.hp2 NA18941.hp1	a0002 a0002	a0002c0004 a0002c0009 a0002c0024 a0002c0004 a0002c0009 a0002c0024	a0002c0004t0021 a0002c0004t0025 a0002c0009t0031 others(2): Show a0002c0004t0021 a0002c0004t0025 a0002c0009t0031 a0002c0009t0032 a0002c0024t0015	a0002c0004t0021g0050 a0002c0004t0025g0098 a0002c0009t0031g0009 others(2): Show a0002c0004t0021g0050 a0002c0004t0025g0098 a0002c0009t0031g0009 a0002c0009t0032g0026 a0002c0024t0015g0051	5	74	0.0676	-447	c.77 others(11): Show c.7735_*8181del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4061		chr20	TogoVar
DHRSX_chrX_2214506_2505976	2277790	GAGAAAGA others(440): Show GAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAG ATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGA ACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAG GAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGG GAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAA GAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	46	0.0217	-447	c.389 others(19): Show c.389-11290_389-10844del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2281827	GAGAGGGA others(440): Show GAGAGGGAGGAAATAGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGA AATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACG AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0030 a0002c0005t0004g0030	1	48	0.0208	-447	c.388 others(17): Show c.388+9228_388+9674del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DLEC1_chr3_38034208_38129025	38081411	ACCTCCCG others(440): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGC CGGGCAGGGGGCTGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20300.hp2 HG03139.hp1 NA20300.hp2	a0018 a0028 a0018 a0028	a0018c0037 a0028c0036 a0018c0037 a0028c0036	a0018c0037t0002 a0028c0036t0003 a0018c0037t0002 a0028c0036t0003	a0018c0037t0002g0010 a0028c0036t0003g0009 a0018c0037t0002g0010 a0028c0036t0003g0009	2	298	0.0067	-447	c.117 others(19): Show c.1174-2737_1174-2291del	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	6/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLGAP2_chr8_732628_1713476	1247679	TGGTGGCC others(440): Show TGGTGGCCGGGAAGACCTTTGAGATCAGTGTGGGAGTAATGGCCCATGTT GGTGGCCGGCAAGACCTTTGAGATCAGTGTGGGAGTGATGGCCCACGTCG GTGGCCGGGAAGACCTTTGAGATCAGTGTGTGAGTCTGATGGTCCACGTC GGTGGCCAGCAAGACCTTTGACATCAGTGTGGGAGTGATGGCCCACGTCG GTGGCCAGGAAGACCTTTGAGATCAGTGTGTGAGTCTGATGGCCCACGTC GGTGGCTGGGAAGACATTTGAGATCAGTGTGGAGTGATGGTCCACGTTGG TGGCCGGGAAGACCTTTGAGATCAGTGTGGGAGTCTGATGGCCCACGTCG GTGGCTGGGAAGACATTTGAGATCAGTGTGGAGTGATGGTCCATGTCGGT GGCCGGGAAGACCTTTGAGATCAGTGTGGGAGTCTGATGGCCCACGTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG01891.hp1 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0024 a0002c0007t0008 a0001c0003t0024 a0002c0007t0008	a0001c0003t0024g0003 a0002c0007t0008g0040 a0001c0003t0024g0003 a0002c0007t0008g0040	2	31	0.0645	-447	c.74- others(17): Show c.74-11165_74-10719del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFI27L1_chr14_94076310_94107709	94086703	GAACTTTT others(440): Show GAACTTTTGCAAATAATAATAATAACAACAAAGTGAGCAATGGCTAGAGC TGCTCTTAGGGTCTTGGAAGGAGCCAGTGCAAGTGAGGGTCCCTGAACTC AGGCTTCTTTTGCTTCGAGGTAAACCCATTTCTGCTTCTATCATCAGTAG CTACATATAATTATTTATATAGGAGTATAAAATTTTATTTATTCAATTTT TGTTACTTCCCACTTTTGCTGTGTCAACCTAAATAACAAACAGAGAGAAG CCCTCTAAAAGAAAATGACATTTGAGAATACGGCATTGCAGTGGGAAAAT TCATGCCATAGTAAACTATGTACATATTCAAGGATGTAAAGGAAGACAAA GGTTTTTAAAGGAAAAATGAAGACAATTATGTAATTGTTTTGAAGCCAGA TTAGAAAGCAATTAAAAGACAACAGCCTTAATCAATTACTCTTAGAAT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	446	0.0022	-447	c.-52 others(17): Show c.-52+5260_-52+5706del	IFI27L1	ENSG00000165948.11	transcript	ENST00000555523.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
MED25_chr19_49813289_49841979	49821777	TTGCACTC others(440): Show TTGCACTCCAGCCTGGGCAACAAGAGTGAAATTCTGTCTCAAAAAAAAAA AAAAAAAAAAATTTTGTAGTGGCGGGGCACGGTGGCTCATCCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCGAATCACCTGAGGTCAGGAGTTC GAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACAAAAAATACAA AAATTGGGCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCTGAGGCGGGTGGATGATGAGGTCAGGAGATGGAGACCATCCTGGCTAA CACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTTAACCGGGCGCG GTGGCAGGCACCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCAGGAGGCGGAGTTTGCAGTGAGCCAAGATTGCACCAC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02809.hp1 HG03041.hp2 HG01433.hp2 HG02809.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0127 a0001c0001t0001g0040 a0001c0001t0001g0127	3	404	0.0074	-447	c.305 others(17): Show c.305+2503_305+2949del	MED25	ENSG00000104973.19	transcript	ENST00000312865.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
MVB12B_chr9_126321829_126512040	126484736	CCTTCCAC others(440): Show CCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAG GTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGT GCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAGGTCAGGGTACC TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCGTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACC TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02683.hp1 HG00438.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0055 a0001c0001t0001g0025 a0001c0001t0001g0055	2	247	0.0081	-447	c.873 others(16): Show c.873+735_873+1181del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
MVB12B_chr9_126321829_126512040	126484825	CCTTCCAC others(440): Show CCTTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAG GTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGT GCTTCATGAGGTCAGGGTACCGTCCACTGTGCTTCATGAGGTCAGGGTAC CTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAG GTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGT GCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTAC CTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAG GTCAGGGTACTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0082 a0001c0001t0049g0082	1	316	0.0032	-447	c.873 others(16): Show c.873+824_873+1270del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
NMNAT3_chr3_139555191_139682972	139581926	GGCTCATG others(440): Show GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGGGGTGGGGGGATCA CCTGAGGTCAGGAGTTTGAAACCAGCTTGGCCAACATGGTGAAACCTGTC TCTATGAAAATACAAAAAAATTAGCTGGGCATAATGGTGTGTGCCTGTAA TCCCAGCTGCTAGCAAGGCTGAGGCAGGAGAATCGCCTGAGCCCAGGAGG CAGAGGTTGCAGTGAGCCGAGATTACGCCACTGTGAGCCTAGGCAACAGA GCAAGACTCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAC CACATGTAAGGCAAAAAACAAAAGAGAAGATCTAACTTCTTAGTAAATGT GTTCACCATTGGGGTGTTTATAAAAGAGATGTCATTCTTTATTAATATAA GAGAATATTCTTATTCTTAGAAAATGTACACTTAGGCCGGACATGATA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	320	0.0031	-447	c.110 others(17): Show c.110-3318_110-2872del	NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	4/6			chr3	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(440): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(42): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01192.hp1 HG01255.hp1 HG01358.hp1 HG01891.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02300.hp1 HG02572.hp2 HG03041.hp2 HG03834.hp1 HG04228.hp1 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18961.hp2 NA18963.hp2 NA18969.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18994.hp2 NA19000.hp1 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0002c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0042 others(40): Show a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0114 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0263 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0001t0001g0308 a0001c0001t0001g0315 a0001c0001t0002g0045 a0001c0001t0002g0077 a0001c0006t0001g0188 a0002c0002t0001g0022 a0002c0002t0001g0105 a0002c0002t0001g0283	45	263	0.1711	-447	c.981 others(17): Show c.981+1906_981+2352del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PPARD_chr6_35337558_35433178	35384026	AGGGAGGG others(440): Show AGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCC GGGAGGGAGGTCGGGGCGTCAGCCTCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCTGGCCACCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCGGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCAGGGAGGGAGGTAGGTTCAGCCCCC CGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGCGTCAGCCTCCC GCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGCTG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGCGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18960.hp2 NA18967.hp2 others(2): Show NA18948.hp1 NA18960.hp2 NA18967.hp2 NA18977.hp1 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0232 a0001c0002t0008g0233 a0001c0002t0008g0234 others(2): Show a0001c0002t0008g0232 a0001c0002t0008g0233 a0001c0002t0008g0234 a0001c0002t0008g0235 a0001c0002t0008g0236	5	235	0.0213	-447	c.-10 others(21): Show c.-101-26929_-101-26483del	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SGSM2_chr17_2332501_2386054	2356427	GTTGGGGG others(440): Show GTTGGGGGCAGGGGCCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG ATTGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA TTGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGT TGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGAT TGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00642.hp2 others(59): Show HG00099.hp2 HG00544.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp2 HG01361.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02135.hp2 HG02258.hp1 HG02486.hp2 HG02735.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp1 NA18964.hp2 NA18970.hp1 NA18975.hp2 NA18978.hp2 NA18989.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19072.hp2 NA19080.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA20752.hp1	a0001 a0010 a0014 others(3): Show a0001 a0010 a0014 a0023 a0026 a0027	a0001c0001 a0001c0003 a0001c0029 others(5): Show a0001c0001 a0001c0003 a0001c0029 a0010c0023 a0014c0040 a0023c0033 a0026c0036 a0027c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0003t0001 a0001c0003t0002 a0001c0029t0001 a0010c0023t0001 a0014c0040t0001 a0023c0033t0001 a0026c0036t0002 a0027c0019t0001	a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0053 others(56): Show a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0103 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0161 a0001c0001t0001g0188 a0001c0001t0001g0210 a0001c0001t0001g0221 a0001c0001t0001g0240 a0001c0001t0001g0251 a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0294 a0001c0001t0001g0307 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0355 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0166 a0001c0001t0002g0196 a0001c0001t0002g0217 a0001c0001t0002g0225 a0001c0001t0002g0239 a0001c0001t0002g0253 a0001c0001t0002g0385 a0001c0001t0003g0317 a0001c0001t0010g0015 a0001c0001t0010g0257 a0001c0001t0013g0315 a0001c0001t0013g0320 a0001c0001t0017g0363 a0001c0003t0001g0107 a0001c0003t0002g0011 a0001c0003t0002g0095 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0108 a0001c0003t0002g0109 a0001c0003t0002g0125 a0001c0003t0002g0202 a0001c0029t0001g0356 a0010c0023t0001g0366 a0014c0040t0001g0216 a0023c0033t0001g0198 a0026c0036t0002g0209 a0027c0019t0001g0018	62	374	0.1658	-447	c.134 others(17): Show c.134-5203_134-4757del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3RF3_chr2_109124205_109509634	109199332	ATGGAATG others(440): Show ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGATGGAATGGAATGGGATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0019 a0001c0001t0039g0019	1	166	0.0060	-447	c.573 others(19): Show c.573+69220_573+69666del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9			chr2	TogoVar
TDP2_chr6_24644979_24671899	24668057	CGCCACCA others(440): Show CGCCACCATGCCCAGCTAATATTGTACTTTTAGTAGAGACAGGGTTTCTC CATGTTGGTCAGGCTGCTCTCGAACTCCCGACCTCAGGTGAAACGCCTGC CTCCGCCTCCCAAAGTGCTGGGATTACTGGTGTGAGCCGCCACGCCAGAC CTTGAAGGTGTTTGTTGTTGTTGTTGTTTTGAGATGGAGTCTTGCTCTGT TGCCCATGCGGGAGTGCAGTGACACGATCTCGGCTCACTGCAACCTCCGC CTCCTGGGTTCAAGTGATTCTCATGCCTCAGCCTTCCAAGTAGCTGGGAT GATTACAGGCATGCGCCACCAAGCCTGGCTAATTCTTTATTTTTATTAGA GACAGGGTTTCATCATGTTGGTCAGGCTGGTCTCAAACTGCTGACCTCAG GTGATCCACCTGCCTTGGCCTCCCGAAGTGCTGGGATTACAGGCATGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18987.hp1 NA18965.hp1 NA18987.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	2	416	0.0048	-447	c.-16 others(11): Show c.-1642_-1196del	TDP2	ENSG00000111802.14	transcript	ENST00000378198.9	protein_coding		1159		chr6	TogoVar
TUBGCP2_chr10_133273635_133313872	133291931	ATGTCCCT others(440): Show ATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTG TACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTCTGTGT CCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCC CTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCC GTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCG TGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCC CTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCC TCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAG AGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	255	0.0039	-447	c.121 others(17): Show c.1214+121_1214+567del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
WAPL_chr10_86430256_86526792	86452487	GAGGCTGA others(440): Show GAGGCTGAGGCAGGAGAATAGCTTGAACCCAGGAGATGGAGGTTGCAGTG AGCCGAGACTGTGCCACTGCACTCCAGCCTGGGCAAGAGAGTGAGTGAGA CTCCATCTCAAAAACAAACAAAAAAAGAACAAAAAAAACAAAACAAAAAA ACCACCGATTTTCCCAAAGAATCATTCCTTTTATTTTTAATTGCCAATTT TAGCTTTCGTACTTTTTATTTTTACATAGGGTCTTTTCATGGCTTTCTTT TGCACAATAAGAAGTACGTTCAGCCAGACGCAATAGCTCATACCTGTAAT CCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGCCAGGAGTT TGAAACCAGCCTTGGCAACATGGCAAAACCCCGTCTCTACTAAAAATACA AAAATTAGCCAGGCGTGGTGGCACATGCCTACAGTCCCAGCACCTGGA	G G	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18959.hp2 NA18943.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0345 a0001c0001t0001g0333 a0001c0001t0001g0345	2	408	0.0049	-447	c.294 others(17): Show c.2949+286_2950-357del	WAPL	ENSG00000062650.20	transcript	ENST00000298767.10	protein_coding	14/18			chr10	TogoVar
ZNF516_chr18_76352682_76500242	76393144	AGGTGGTC others(440): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTC AGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGC CGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	323	0.0031	-447	c.181 others(21): Show c.1811-13288_1811-12842del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393232	GGGCAGGT others(440): Show GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAA	G G	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0337 a0001c0001t0005g0337	1	232	0.0043	-447	c.181 others(21): Show c.1811-13376_1811-12930del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ACAP3_chr1_1287391_1312930	1288385	CCGTGTCC others(439): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	292	0.0034	-446	c.47 others(11): Show c.4733_*5178del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4005		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288683	CCGTGTCC others(439): Show CCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0010 a0001c0003t0002g0010	1	291	0.0034	-446	c.44 others(11): Show c.4435_*4880del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3707		chr1	TogoVar
DLGAP2_chr8_732628_1713476	1015626	GTGTGTGA others(439): Show GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGAC GATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTG ACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGC CTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTC CACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCA GGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCAC TGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGA CAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	38	0.0263	-446	c.73+ others(19): Show c.73+107667_73+108112del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137566454	TCTGTCTG others(439): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	338	0.0030	-446	c.641 others(17): Show c.641-1746_641-1301del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERC1_chr12_986223_1500931	1090386	TATTGTTG others(439): Show TATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGC CTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAG GCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAA GTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA TTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGC CCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAAT ATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCT GAGATTACAGGCAATATGCCTGTGCCTGGCCCATTATTATTATTATTGTT GTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp1 HG03225.hp2 HG02717.hp1 HG03195.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0009 a0001c0001t0018 a0001c0013t0045 a0001c0001t0009 a0001c0001t0018 a0001c0013t0045	a0001c0001t0009g0072 a0001c0001t0018g0074 a0001c0013t0045g0073 a0001c0001t0009g0072 a0001c0001t0018g0074 a0001c0013t0045g0073	3	160	0.0188	-446	c.108 others(19): Show c.1086+6810_1086+7255del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
GRTP1_chr13_113319163_113369130	113346252	CCGAGAGC others(439): Show CCGAGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGAC CTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGAC CCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCT GAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACCT CTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCC GGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAA GAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCT CTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCT GGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAG	C C	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	270	0.0037	-446	c.466 others(17): Show c.466-1739_466-1294del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346378	GGACCTGG others(439): Show GGACCTGGGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGG CCGAGAACAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGG ACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCAG ACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCTGTGG CCGAGAACAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGG ACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGAT CTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCT GAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGAC CTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0284 a0002c0002t0001g0284	1	214	0.0047	-446	c.466 others(17): Show c.466-1865_466-1420del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346799	CGGGAGGA others(439): Show CGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACA AGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACC TCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATCTG GGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCTGAG AGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTC TGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGG AGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCAGAGAG CAGACCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGACCTCTG TGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18967.hp1 HG02071.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0230 a0001c0001t0001g0147 a0001c0001t0001g0230	2	274	0.0073	-446	c.466 others(17): Show c.466-2286_466-1841del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
LMF1_chr16_848634_975984	960704	CACAGACT others(439): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAACACGGGATCACGACCCAGACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0073 a0001c0006t0001g0073	1	292	0.0034	-446	c.194 others(17): Show c.194-6484_194-6039del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
RIPK1_chr6_3063494_3120187	3093643	GCGCGCCT others(439): Show GCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCC TACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAA CCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGC CGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC GCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCT AGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGAGCGCCTA CCTGCCGCACCTAGTAACTGCAGCGCGCCTACCTGCCGCACCTAGTAACT GCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTACCTC	G G	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	338	0.0030	-446	c.915 others(17): Show c.915+3988_915+4433del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1288385	CCGTGTCC others(439): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	287	0.0035	-446	c.166 others(17): Show c.1662+350_1662+795del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288683	CCGTGTCC others(439): Show CCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	287	0.0035	-446	c.166 others(18): Show c.1662+648_1662+1093del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3RF3_chr2_109124205_109509634	109199333	TGGAATGG others(439): Show TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGATGGAATGGAATGGGATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGG	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0048 a0001c0001t0073g0048	1	40	0.0250	-446	c.573 others(19): Show c.573+69221_573+69666del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9			chr2	TogoVar
TUBGCP2_chr10_133273635_133313872	133291926	CCCCCATG others(439): Show CCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCT ACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCTC TGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCG TGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATG TCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACA CTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGG GAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGT GTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTAC GGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	277	0.0036	-446	c.121 others(17): Show c.1214+127_1214+572del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
YBEY_chr21_46281342_46302751	46294094	CAGTGGAG others(439): Show CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCTGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	398	0.0025	-446	c.340 others(17): Show c.340-2067_340-1622del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
ABR_chr17_998519_1184981	1131353	TCCCCCCT others(438): Show TCCCCCCTTTGCACACCAAATGCAGTGCCTGACACGCACACAGCTCCCCC CTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCCTCTTT GCACACCAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCCTTTGCACAC CAAATGCAGTGCCTGCCACGCGCACAGCTCCCCCTCTTTGCACACCAAAT GCAGTGCCTGCCACGCACACAGCTCCCCCCTTTGCACACCAAATGCAGTG CCTGACACGCACACAGCTCCCCCCTTTGCACACCAAATGCAGTGCCTGAC ACGCACACAGCTCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCA CAGCTCCCCCCTTTGCACACCAAATGCAGTGCCTGCCACGCGCAGAGCTC CCCCCTCTTTGCACACCAAATGCAGTGCCTGCCACGCGCACAGCTC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0217 a0001c0001t0019g0217	1	336	0.0030	-445	c.62- others(15): Show c.62-6431_62-5987del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADARB2_chr10_1172313_1742525	1409634	CGAGGCCT others(438): Show CGAGGCCTGGCTGTGGTCATGGTGCCGAGGCCTGGCCACGGTCATGGGGA AGGATTCTCAGTGGTGCTGAGGCGTGGCTGTGGTCATGAGGAAGGATTCT CAGTGGTGCCGAGGCCTGGTCGTGGTCATAGGGAATGACTGACAGTGGTG CTGAGGCCTGGCCGTGGTCATAGGGAAGGATTCTCAGTGGTGCTGAGGCC TGGCCGTGGTCACAGGGAATGATCCTCATTGGTGCTGAGGCCTGGCTGTG GTCATAGGGAAGGATTCTCAGTGGTGCCGAGGCCTGGCTGTGGTCATAGG GAAGGATTCTCAGTGGTGCCGAGGCCTGGCTGTGGTCATAGGGAAGGATT CTCAGTGGTGCTGAGGCCTGGCTGTGGTCATAGGGAAGGATTCTCAGTGG TGCCGAGGCCTGGCTGTGGTCATAGGGAAGGATTCTCAGTGGTGCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01433.hp1 HG01934.hp2 others(24): Show HG00408.hp2 HG01433.hp1 HG01934.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02602.hp1 HG02602.hp2 HG03017.hp1 HG03139.hp2 HG03669.hp1 NA18945.hp2 NA18967.hp2 NA18982.hp2 NA18988.hp1 NA18988.hp2 NA18995.hp1 NA19011.hp1 NA19011.hp2 NA19070.hp1 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0009c0015	a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 others(13): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0055 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0041 a0002c0002t0043 a0002c0002t0063 a0002c0002t0064 a0004c0005t0002 a0009c0015t0014	a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0098 others(24): Show a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0010g0025 a0001c0001t0011g0017 a0001c0001t0017g0030 a0001c0001t0055g0089 a0002c0002t0002g0043 a0002c0002t0002g0050 a0002c0002t0002g0067 a0002c0002t0004g0082 a0002c0002t0004g0088 a0002c0002t0004g0096 a0002c0002t0004g0101 a0002c0002t0005g0012 a0002c0002t0005g0022 a0002c0002t0005g0028 a0002c0002t0005g0033 a0002c0002t0006g0011 a0002c0002t0007g0001 a0002c0002t0041g0074 a0002c0002t0043g0053 a0002c0002t0063g0091 a0002c0002t0064g0100 a0004c0005t0002g0039 a0009c0015t0014g0008	27	106	0.2547	-445	c.101 others(19): Show c.101-30919_101-30475del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
C7orf50_chr7_992006_1143247	1116477	AGGACCAG others(438): Show AGGACCAGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTGCA GTTCTAGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCA CTACAGTTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATG ACATCACTACAGTTCTACGGACCGGCTTCCATCACCGACGTCCACGCAGG ATGATGACATCACTACAGCTCTACGGACCGGCTTCCATCACCGACGTCCA CGCAGGATGATGACATCACTACAGCTCTACGGACAGGCTTCCATCACCAA CGCCCATGCAGGATGATGACATCACTACAGATCTAGGGACCGGCTTCCAT CACCGACGCCCACGCAGGATGATGACATGACTGCAGCTCTACGGACCGGC TTCCATCACCGACGTCCACGCAGGATGATGACATCACTGCAGTTCT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0288 a0002c0002t0003g0288	1	229	0.0044	-445	c.129 others(19): Show c.129+10335_129+10779del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CCDC77_chr12_396644_447642	420976	ACTTCTGT others(438): Show ACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGC ACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTG AGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCT TCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACA CTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGA GGGTAAATACACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTT CTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACA CTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGA GGGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02080.hp1 HG03139.hp2 others(14): Show HG00597.hp1 HG02080.hp1 HG03139.hp2 HG03471.hp1 HG03516.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18949.hp2 NA18961.hp1 NA18982.hp2 NA18997.hp1 NA18999.hp2 NA19002.hp1 NA19072.hp1 NA19078.hp1 NA19084.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0003c0003t0002 a0004c0004t0001	a0001c0001t0001g0151 a0001c0001t0001g0241 a0001c0001t0001g0365 others(14): Show a0001c0001t0001g0151 a0001c0001t0001g0241 a0001c0001t0001g0365 a0001c0001t0002g0083 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0096 a0001c0001t0004g0098 a0001c0001t0004g0102 a0001c0001t0007g0015 a0001c0001t0007g0016 a0003c0003t0002g0380 a0004c0004t0001g0315	17	417	0.0408	-445	c.413 others(17): Show c.413+2376_413+2820del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
DHRS12_chr13_51762993_51809163	51774376	TGTATTCT others(438): Show TGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGT ATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTC TCCTACAGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTA TTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCTACATG TATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAT GTATTCTACAGTATTCTCCTACAGTATTCTACTACATGTATTCTCCTACA GTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTAT TCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0221 a0002c0002t0003g0221	1	388	0.0026	-445	c.364 others(15): Show c.364-787_364-343del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
EIF3B_chr7_2349827_2385745	2377631	CGTGTTCT others(438): Show CGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGC GAGCACTGCTGGGATGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCTCTCCTGGGATGCTGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGATGCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02055.hp2 HG02145.hp1 others(7): Show HG01496.hp1 HG02055.hp2 HG02145.hp1 HG04228.hp1 HG06807.hp2 NA18947.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0016 a0002c0002 a0001c0001 a0001c0016 a0002c0002	a0001c0001t0001 a0001c0016t0010 a0002c0002t0001 a0001c0001t0001 a0001c0016t0010 a0002c0002t0001	a0001c0001t0001g0047 a0001c0001t0001g0270 a0001c0016t0010g0285 others(6): Show a0001c0001t0001g0047 a0001c0001t0001g0270 a0001c0016t0010g0285 a0002c0002t0001g0039 a0002c0002t0001g0155 a0002c0002t0001g0198 a0002c0002t0001g0218 a0002c0002t0001g0227 a0002c0002t0001g0254	10	363	0.0275	-445	c.215 others(17): Show c.2154+584_2155-586del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377682	GCTCCTGG others(438): Show GCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGG TGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTG TGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGG GAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCG AGCACTGCTGGGATGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGATGCTGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	263	0.0038	-445	c.215 others(17): Show c.2154+617_2155-553del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
GAL3ST2_chr2_241771822_241809287	241807504	ACCCAGGG others(438): Show ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	177	0.0056	-445	c.33 others(11): Show c.3339_*3783del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3218		chr2	TogoVar

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