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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ZNF543_chr19_57315472_57335770	57327475	G G	GCTGGGAT others(419): Show GCTGGGATTACAGGCATACGCCACCACACCTGGCTAATTTTGTGTTTTTA GTAGAGACGGGGTTTCTCCATTTTGGTCAGGCTGGTCTCAAACTCCTGAC CTTAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTCA TGAGCCACCGTGCCCAGCATAATTTTCTCTTTCAAGATCTACTCTAGGCT GGGCATGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGT ACTATTTCATCTTCTTGTTCTCACTGAAATGCTGATCTTGTTTCTTCTTC TTCTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTTGCCCAAGTTGAAGTG CAGTGGCATAATCTCGGCTCACTGCAACCTCTGTCTTCCGGGTTCAAGTG GTTCTCCTGCCTTAGCCTCCTGAGTAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG03516.hp2 HG02258.hp2 HG02922.hp1 HG03516.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0008 a0003c0008t0019 a0003c0008t0008 a0003c0008t0019	a0003c0008t0008g0124 a0003c0008t0019g0149 a0003c0008t0019g0150 a0003c0008t0008g0124 a0003c0008t0019g0149 a0003c0008t0019g0150	3	460	0.0065	426	c.242 others(441): Show c.242-215_242-214insATACGCCACCACACCTGGCTAATTTTGTGT TTTTAGTAGAGACGGGGTTTCTCCATTTTGGTCAGGCTGGTCTCAAACTC CTGACCTTAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAC AGTCATGAGCCACCGTGCCCAGCATAATTTTCTCTTTCAAGATCTACTCT AGGCTGGGCATGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTG AGGGTACTATTTCATCTTCTTGTTCTCACTGAAATGCTGATCTTGTTTCT TCTTCTTCTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTTGCCCAAGTTG AAGTGCAGTGGCATAATCTCGGCTCACTGCAACCTCTGTCTTCCGGGTTC AAGTGGTTCTCCTGCCTTAGCCTCCTGAGTACCTGGGATTACAGGC		ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF543_chr19_57315472_57335770	57327475	G G	GCTGGGAT others(419): Show GCTGGGATTACAGGCATACGCCACCACACCTGGCTAATTTTGTGTTTTTG GTAGAGACGGGGTTTCTCCATTTTGGTCAGGCTGGTCTCAAACTCCTGAC CTTAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGTCA TGAGCCACCGTGCCCAGCATAATTTTCTCTTTCAAGATCTACTCTAGGCT GGGCATGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGT ACTATTTCATCTTCTTGTTCTCACTGAAATGCTGATCTTGTTTCTTCTTC TTCTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTTGCCCAAGTTGAAGTG CAGTGGCACAATCTCGGCTCACTGCAACCTCTGTCTTCCGGGTTCAAGTG GTTCTCCTGCCTTAGCCTCCTGAGTAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	460	0.0022	426	c.242 others(441): Show c.242-215_242-214insATACGCCACCACACCTGGCTAATTTTGTGT TTTTGGTAGAGACGGGGTTTCTCCATTTTGGTCAGGCTGGTCTCAAACTC CTGACCTTAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTAC AGTCATGAGCCACCGTGCCCAGCATAATTTTCTCTTTCAAGATCTACTCT AGGCTGGGCATGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTG AGGGTACTATTTCATCTTCTTGTTCTCACTGAAATGCTGATCTTGTTTCT TCTTCTTCTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTTGCCCAAGTTG AAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTGTCTTCCGGGTTC AAGTGGTTCTCCTGCCTTAGCCTCCTGAGTACCTGGGATTACAGGC		ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF543_chr19_57315472_57335770	57327475	G G	GCTGGGAT others(419): Show GCTGGGATTACAGGCATACGCCACCACACCTGGCTAATTTTGTGTTTTTG GTAGAGACGGGGTTTCTCCATTTTGGTCAGGCTGGTCTCAAACTCCTGAC CTTAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTCA TGAGCCACCGTGCCCAGCATAATTTTCTCTTTCAAGATCTACTCTAGGCT GGGCATGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGT ACTATTTCATCTTCTTGTTCTCACTGAAATGCTGATCTTGTTTCTTCTTC TTCTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTTGCCCAAGTTGAAGTG CAGTGGCACAATCTCGGCTCACTGCAACCTCTGTCTTCCGGGTTCAAGTG GTTCTCCTGCCTTAGCCTCCTGAGTAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(145): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18999.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp1 NA19075.hp2 NA19079.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0006 a0015 a0001 a0006 a0015	a0001c0001 a0001c0016 a0006c0006 others(1): Show a0001c0001 a0001c0016 a0006c0006 a0015c0017	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0045 a0001c0016t0001 a0006c0006t0001 a0006c0006t0007 a0006c0006t0014 a0015c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(58): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0067 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0007g0002 a0001c0001t0007g0019 a0001c0001t0007g0116 a0001c0001t0011g0008 a0001c0001t0011g0045 a0001c0001t0011g0136 a0001c0001t0014g0002 a0001c0001t0014g0147 a0001c0001t0017g0002 a0001c0001t0034g0020 a0001c0001t0036g0094 a0001c0001t0038g0002 a0001c0001t0045g0068 a0001c0016t0001g0002 a0006c0006t0001g0003 a0006c0006t0001g0010 a0006c0006t0001g0048 a0006c0006t0001g0127 a0006c0006t0007g0003 a0006c0006t0014g0074 a0015c0017t0001g0130	148	460	0.3217	426	c.242 others(441): Show c.242-215_242-214insATACGCCACCACACCTGGCTAATTTTGTGT TTTTGGTAGAGACGGGGTTTCTCCATTTTGGTCAGGCTGGTCTCAAACTC CTGACCTTAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAC AGTCATGAGCCACCGTGCCCAGCATAATTTTCTCTTTCAAGATCTACTCT AGGCTGGGCATGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTG AGGGTACTATTTCATCTTCTTGTTCTCACTGAAATGCTGATCTTGTTTCT TCTTCTTCTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTTGCCCAAGTTG AAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTGTCTTCCGGGTTC AAGTGGTTCTCCTGCCTTAGCCTCCTGAGTACCTGGGATTACAGGC		ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF543_chr19_57315472_57335770	57327475	G G	GCTGGGAT others(419): Show GCTGGGATTACAGGCATACGCCACCACACCTGGCTAATTTTGTGTTTTTG GTAGAGACGGGGTTTCTCCATTTTGGTCAGGCTGGTCTCAAACTCCTGAC CTTAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTCA TGAGCCACCGTGCCCAGCATAATTTTCTCTTTCAAGATCTACTCTAGGCT GGGCATGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGT ACTATTTCATCTTCTTGTTCTCACTGAAATGCTGATCTTGTTTCTTCTTC TTCTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTTGCCCAAGTTGAAGTG CAGTGGCACAATGTCGGCTCACTGCAACCTCTGTCTTCCGGGTTCAAGTG GTTCTCCTGCCTTAGCCTCCTGAGTAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	460	0.0022	426	c.242 others(441): Show c.242-215_242-214insATACGCCACCACACCTGGCTAATTTTGTGT TTTTGGTAGAGACGGGGTTTCTCCATTTTGGTCAGGCTGGTCTCAAACTC CTGACCTTAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAC AGTCATGAGCCACCGTGCCCAGCATAATTTTCTCTTTCAAGATCTACTCT AGGCTGGGCATGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTG AGGGTACTATTTCATCTTCTTGTTCTCACTGAAATGCTGATCTTGTTTCT TCTTCTTCTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTTGCCCAAGTTG AAGTGCAGTGGCACAATGTCGGCTCACTGCAACCTCTGTCTTCCGGGTTC AAGTGGTTCTCCTGCCTTAGCCTCCTGAGTACCTGGGATTACAGGC		ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF543_chr19_57315472_57335770	57327475	G G	GCTGGGAT others(419): Show GCTGGGATTACAGGCATACGCCACCACACCTGGCTAATTTTGTGTTTTTG GTAGAGACGGGGTTTCTCCATTTTGGTCAGGCTGGTCTCAAACTCCTGAC CTTAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGTCA TGAGCCACCGTGCCCAGCATAATTTTCTCTTTCAAGATCTACTCTAGGCT GGGCATGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGGT ACTATTTCATCTTCTTGTTCTCACTGAAATGCTGATCTTGTTTCTTCTTC TTCTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTTGCCCAAGTTGAAGTG CAGTGGCACATTCTCGGCTCACTGCAACCTCTGTCTTCCGGGTTCAAGTG GTTCTCCTGCCTTAGCCTCCTGAGTAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG01070.hp1 others(5): Show HG00099.hp1 HG00140.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01361.hp2 HG01433.hp2 HG04228.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0020 a0001c0001 a0010c0020	a0001c0001t0001 a0010c0020t0001 a0001c0001t0001 a0010c0020t0001	a0001c0001t0001g0012 a0001c0001t0001g0092 a0001c0001t0001g0103 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0092 a0001c0001t0001g0103 a0010c0020t0001g0012	8	460	0.0174	426	c.242 others(441): Show c.242-215_242-214insATACGCCACCACACCTGGCTAATTTTGTGT TTTTGGTAGAGACGGGGTTTCTCCATTTTGGTCAGGCTGGTCTCAAACTC CTGACCTTAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTAC AGTCATGAGCCACCGTGCCCAGCATAATTTTCTCTTTCAAGATCTACTCT AGGCTGGGCATGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTG AGGGTACTATTTCATCTTCTTGTTCTCACTGAAATGCTGATCTTGTTTCT TCTTCTTCTTTTTTTCTTTGAGATGGAGTCTTGCTCTGTTGCCCAAGTTG AAGTGCAGTGGCACATTCTCGGCTCACTGCAACCTCTGTCTTCCGGGTTC AAGTGGTTCTCCTGCCTTAGCCTCCTGAGTACCTGGGATTACAGGC		ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
ZSCAN32_chr16_3377085_3406004	3393207	T T	TATATATA others(419): Show TATATATAAATATATATATATTTATATATATATAAATATATATATATTTA TATATATAAATATATATATATAAATATATATATATTTATATATATATATT TATATATATAAATATATATATTTATATATATATTTATATATATATAAATA TATATATATAAATATATATATATAAATATAAATAAATATATATTTATATA TATAAATAAATATATATTTATATATATATTTATATATATATAAATATATA TATATATTTATATATATAAATATATATATATTTATATATATATAAATATA TATATATTTTATATATATATATAAATATATATATATATTTTATATATATA TAAATATATATATATTTTTATATATATATATAAATATATATATATATTTT ATATATATATATATAAATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	2	400	0.0050	426	c.532 others(441): Show c.532+441_532+442insTATATATATATTTATATATATATATATAAA ATATATATATATATTTATATATATATATAAAAATATATATATATTTATAT ATATATAAAATATATATATATATTTATATATATATATAAAATATATATAT ATTTATATATATATAAATATATATATATTTATATATATAAATATATATAT ATATTTATATATATATAAATATATATATAAATATATATTTATTTATATAT ATAAATATATATTTATTTATATTTATATATATATATTTATATATATATAT TTATATATATATAAATATATATATAAATATATATATTTATATATATAAAT ATATATATATAAATATATATATATTTATATATATATATTTATATATATAA ATATATATATATTTATATATATATAAATATATATATATTTATATAT		ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6						chr16	TogoVar
AHRR_chr5_316714_443285	344423	A A	ATGTGTGA others(420): Show ATGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTG TGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGG GGAGCTGTGTGTGTGTGGGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGG TGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGG TGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGA GGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGG CTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCG GGGGGAGCTGTGTGTGTGTGGGTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0051 a0001c0001t0040g0051	1	268	0.0037	427	c.62+ others(440): Show c.62+633_62+634insAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGT GTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTG TGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCTGTGGG GGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAG CTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGG GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG GGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGT GAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTG		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AKT3_chr1_243494724_243855243	243525819	G G	GGTGGAGG others(420): Show GGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGGGGA AGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGGAGA AGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAGGAGGG GGGGGGGAGGAGGGGGGGGGAGGGGGGGGAGGAGGAGGGGGGGAGGAGGG GGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGG GGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGA GGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAG GAGGGGGAGGAGGAGGAGGAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0195 a0001c0001t0031g0195	1	301	0.0033	427	c.125 others(448): Show c.1252-13394_1252-13393insTCCTCCCCTCCTCCTCCTCCTCCC CCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTC CTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCCTCCCCCTCCCCC TCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCT CCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCCCCCCCCTCCTCCC CCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTC CCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGC TCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTC CAC		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13						chr1	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(420): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAG GAGAGGGGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGG AGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGT GAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGG AAGGCGAGGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03471.hp2 NA21309.hp2 HG02145.hp2 HG03471.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0036 a0003c0003 a0003c0036	a0003c0003t0001 a0003c0036t0001 a0003c0003t0001 a0003c0036t0001	a0003c0003t0001g0279 a0003c0003t0001g0329 a0003c0036t0001g0320 a0003c0003t0001g0279 a0003c0003t0001g0329 a0003c0036t0001g0320	3	350	0.0086	427	c.248 others(442): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCTCGCCTTCC CCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCAC CTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCC CACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCCTCTCCT CACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCACCTTCC CCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCC ACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTC CACTCCCCTCACCTCCTCCTCCCCCTCCCCTCACCTCCCCCTCCCCT		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(420): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGTGGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AAGGTGAGAGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAG GAGAGGGGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGG AGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGT GAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGG AAGGCGAGGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0328 a0003c0003t0001g0328	1	350	0.0029	427	c.248 others(442): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCTCGCCTTCC CCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCAC CTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCC CACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCCTCTCCT CACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCTCTCACCTTCC CCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCC ACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTC CACTCCCCTCACCACCTCCTCCCCCTCCCCTCACCTCCCCCTCCCCT		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729605	G G	GGGAGGTG others(420): Show GGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGA GGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGG AGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGG GGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGAAGGGGGA GGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGG AGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGG GGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGG GGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGG GGAGGGGGAGGGGGAGGCGAGGGGAGGA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19002.hp2 NA19081.hp1 NA18999.hp1 NA19002.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0222	3	350	0.0086	427	c.248 others(442): Show c.2483+73_2483+74insTCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCC TTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCC CTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCC CCCTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTC CCCCTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCC TCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCC CACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTC CCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTCACCTCC		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
ARHGAP39_chr8_144524179_144690846	144687797	C C	CGTGACCA others(420): Show CGTGACCACACACCAGCAGTGAGCACTTCCCACCCCCGTGACCACACACT AGCAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTC CCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCA CTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAC CATTTCCCACCCCCGTGACCACGCACTGGCGGCGACCATTTCCCACCCCC GTGACCACACACTGGCGGCGACCATTTCCCACCCCCGTGACCACGCACTG GCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCAC ACATTTACAGTGAGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	246	0.0041	427	c.-21 others(438): Show c.-2194_-2193insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGC GTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGGT GGGAAATGGTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCC GCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCA CGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTG CTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTG TGGTCACGGGGGTGGGAAGTGCTCACTGCTGGTGTGTGGTCAC		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding					1952		chr8	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(420): Show GGGGCTGAGGCTGGGGCTGGGGGTTGGGGCTGGGGTTGGGGCTGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGTTGGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCT GGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGG GGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGG CTGGGGCTGAGGCTGGGGGCTGAGGCTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18953.hp1 NA18953.hp1	a0034 a0034	a0034c0050 a0034c0050	a0034c0050t0009 a0034c0050t0009	a0034c0050t0009g0002 a0034c0050t0009g0002	1	326	0.0031	427	c.546 others(436): Show c.5461_5462insGTTGGGGCTGGGGTTGGGGCTGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTT GGGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAG GGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGG CTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCT GAGGCTGGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(420): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGTTGGGGCTGGGGCTGG GGCTGAGGCTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGG CTGGAGCTGGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCT GGGGCTGGGGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGA GGCTGGGGCTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGG CTGAGGTTGGGGCTGGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGC TGGGGCTAGGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTG GGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGG GCTGGGGCTGAGGCTGGGGCTGAGGCTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18977.hp1 NA18977.hp1	a0040 a0040	a0040c0061 a0040c0061	a0040c0061t0001 a0040c0061t0001	a0040c0061t0001g0018 a0040c0061t0001g0018	1	326	0.0031	427	c.546 others(436): Show c.5461_5462insTTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGG CTGAGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCT GGGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGG GGCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGG CTGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTT GGGGCTGGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTA GGGCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAG GCTCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGC TGAGGCTGGGGCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASB5_chr4_176208673_176274222	176218377	A A	ATTTGTAT others(420): Show ATTTGTATGACATATAAATATATATATTTGTATGACATATAAATATATAT ATTTGTATGACATATAAATATATATATTTGTATGATATATAAATATATAT ATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATATAT ATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATATAT ATTTGTATGATATATAAATATATATATGTATGATATATAAATATATATAT TTGTATGATATATAAATATATATATTTGTATGATATATAAATATATATAT TTGTATGATATATAAATATATATATTTGTATGATATATAAATATATATAT ATTTGTATGATATATAAATATATATATATTTGTATGATATATAAATATAT ATATTTGTATGATATACAAATATATATT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01993.hp1 HG02129.hp2 others(6): Show HG00544.hp2 HG01993.hp1 HG02129.hp2 NA18940.hp2 NA18942.hp2 NA18987.hp1 NA19001.hp2 NA19054.hp1 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0219 a0001c0002t0001g0235 others(5): Show a0001c0002t0001g0019 a0001c0002t0001g0219 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0246	9	410	0.0220	427	c.671 others(444): Show c.671-1369_671-1368insAATATATATTTGTATATCATACAAATAT ATATATTTATATATCATACAAATATATATATATTTATATATCATACAAAT ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAA ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAA ATATATATATTTATATATCATACATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATGTCATACAAAT ATATATATTTATATGTCATACAAATATATATATTTATATGTCATACAAA		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASH1L_chr1_155330268_155567803	155444916	C C	CTTGTTTG others(420): Show CTTGTTTGTTTGTTCTTTAAAGGGACGGAGTCTGGCTCTGTTGTCCAAGC TGGAGTGCGACAGCAGAATCACAGCTCACTGCAGCATCCACCTCCTAGGC TCAAGGGATTCTTACATGTCAGCCTCCCACGTAACTGGGACTACAGGCAT GAGACAGGACACTTGGCTAATTTTTCTATTTTTTTTTTTTTTTTTTTTTT TTAGAGACAGGGTCTCACTATGCTGCCCAGGCTGGTTTCCAACTCCTGGG CTCAAGTGATTATCCGGCCACATCCTCCCTAAGTGTTTTTTTTCATAGAC AGAGTATTGCTTCAATGATCCTCTAGCCTCAGCCTCCCAAAGTGTTGAGC TTACAGGCATGAGCCACCAAGCGCAAGTCTAGCCTTAAATAACGTTTTTT TGAAAAGCAAAAGTCTTAAAGTTTGATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0180 a0009c0013t0002g0180	1	182	0.0055	427	c.508 others(446): Show c.5087-5849_5087-5848insTATCAAACTTTAAGACTTTTGCTTTT CAAAAAAACGTTATTTAAGGCTAGACTTGCGCTTGGTGGCTCATGCCTGT AAGCTCAACACTTTGGGAGGCTGAGGCTAGAGGATCATTGAAGCAATACT CTGTCTATGAAAAAAAACACTTAGGGAGGATGTGGCCGGATAATCACTTG AGCCCAGGAGTTGGAAACCAGCCTGGGCAGCATAGTGAGACCCTGTCTCT AAAAAAAAAAAAAAAAAAAAAAAATAGAAAAATTAGCCAAGTGTCCTGTC TCATGCCTGTAGTCCCAGTTACGTGGGAGGCTGACATGTAAGAATCCCTT GAGCCTAGGAGGTGGATGCTGCAGTGAGCTGTGATTCTGCTGTCGCACTC CAGCTTGGACAACAGAGCCAGACTCCGTCCCTTTAAAGAACAAACAAACA A		ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	4/27						chr1	TogoVar
B3GNTL1_chr17_82937149_83056770	83026615	T T	TACACAGA others(420): Show TACACAGAGGAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATA CACAGAGGAGGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACA CAGAGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAG AGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGC GGGACGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGG GCGGGAGCCTGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACG GGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGG AGCCTGCAGACAAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGAAG CCTGCAGACAAACCCACCCTCGACAGAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19000.hp1 NA18943.hp2 NA19000.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0013 a0002c0009t0013	a0002c0009t0013g0117 a0002c0009t0013g0119 a0002c0009t0013g0117 a0002c0009t0013g0119	2	266	0.0075	427	c.297 others(444): Show c.297+8419_297+8420insGTCTGTCGAGGGTGGGTTTGTCTGCAGG CTTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT CCCTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCC CGTCCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCCGC CCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTCCC GCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCT CTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTG TGTGTCTGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCTCTGTG TATCGGTCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCTCCTCTGTGT		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12						chr17	TogoVar
B4GALNT4_chr11_364499_387117	374733	A A	AAGGGAGG others(420): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGA GGAAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGG AGGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGGAGGGAGGGAGG GAGGAGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAGGGAGGGAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAGGAGGA GGAGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	184	0.0054	427	c.784 others(442): Show c.784-687_784-686insGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAGGGAGGA GGGAGGAGGAGGGAGGGAGGGAGGGAGGGAGGAGGAGGGAGGGAGGAGGG AGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG		B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BCL11A_chr2_60452194_60558654	60468025	A A	AGTGATGG others(420): Show AGTGATGGTGGTAGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAG TGATGGTGGTGGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGATG GTGGTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGT GGTGGTAATGGTGGTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGG TAGTGATGGTGGTGGTAATGGTGGTGGTGGTGGTGGTGGTAGTGATGGTG GTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGT GGTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGCTGG TGGTCATGGTACTTTGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTAGTGATAATGGTGGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0209 a0001c0001t0018g0209	1	262	0.0038	427	c.487 others(442): Show c.487+706_487+707insCACCACCATTATCACTACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACAAAGTACCATGACCACC AGCACCATCACTACCACCACCACCACCATCACCACCACCACCATTACCAC CACCATCACTACCACCACCACCATCACCACCAGTACCATCACCACCACCA CCATCACTACCACCACCACCACCACCACCATTACCACCACCATCACTACC ACCACCACCATCACCACCAGTACCATCACCACCACCACCATTACCACCAC CATCACTACCACCACCACCATCACCACCAGTACCATCACCACCACCACCA TCACTACCACCACCACCACCACCACCACCACCATTACCACCACCATCACT ACCACCACCACCATCACCACCAGTACCATCACCACTACCACCATCAC		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3						chr2	TogoVar
BRSK2_chr11_1384934_1467689	1417813	C C	CCTGTGTC others(420): Show CCTGTGTCCTGCTTCTGTGGGCTGTTTCTTCTCTTGAGAGTGGGTCACCT GTGTCCTGCTTCTGTGGGCTGTTTCTTCTCTTGAGAGTGGGTCACACTGT GTCCTGCTTCTGTTGGCAGTTTCTTCTCTTGAGAGTGGTTCTCCTGTGTC CTGCTTCTGTTGGCTGTTTCTTCTCTTGAGAGTGGGTCACCTGTGTCCTG CTTCTGTTGGCAGTTTCTTCTCTTGAGAGTGGTTCTCCTGTGTCCTGCTT CTGTTGGCTGTTTCTTCTCTTGAGAGTGGGTCACACTGTGTCCTGCTTCT GTTGGCTGTTTCTTCTCTTGAGAGTGGGTCACACTGTGTCCTGCTTCTGT TGGCTGTTTCTTCTCTTGTGAGTGGGTCACCTGTGTCCTGCTTCTGTGGG CTGTTTCTTCTCTTGAGAGTGGGTCACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01123.hp2 others(21): Show HG00639.hp2 HG01069.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG01361.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG03041.hp2 HG03942.hp2 HG04115.hp2 HG06807.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0048 a0001c0001t0057 a0001c0001t0068 a0001c0001t0074 a0001c0003t0003 a0002c0002t0002	a0001c0001t0001g0046 a0001c0001t0001g0189 a0001c0001t0001g0191 others(21): Show a0001c0001t0001g0046 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0004g0161 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0177 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0185 a0001c0001t0004g0190 a0001c0001t0004g0314 a0001c0001t0004g0316 a0001c0001t0006g0215 a0001c0001t0006g0218 a0001c0001t0006g0229 a0001c0001t0006g0248 a0001c0001t0006g0251 a0001c0001t0048g0342 a0001c0001t0057g0184 a0001c0001t0068g0243 a0001c0001t0074g0213 a0001c0003t0003g0291 a0002c0002t0002g0318	24	360	0.0667	427	c.92- others(444): Show c.92-18164_92-17738dupGTGGGCTGTTTCTTCTCTTGAGAGTGGG TCACACTGTGTCCTGCTTCTGTTGGCAGTTTCTTCTCTTGAGAGTGGTTC TCCTGTGTCCTGCTTCTGTTGGCTGTTTCTTCTCTTGAGAGTGGGTCACC TGTGTCCTGCTTCTGTTGGCAGTTTCTTCTCTTGAGAGTGGTTCTCCTGT GTCCTGCTTCTGTTGGCTGTTTCTTCTCTTGAGAGTGGGTCACACTGTGT CCTGCTTCTGTTGGCTGTTTCTTCTCTTGAGAGTGGGTCACACTGTGTCC TGCTTCTGTTGGCTGTTTCTTCTCTTGTGAGTGGGTCACCTGTGTCCTGC TTCTGTGGGCTGTTTCTTCTCTTGAGAGTGGGTCACACTGTGTCCTGCTT CTGTGGGCTGTTTCTTCTCTTGAGAGTGGGTCACCTGTGTCCTGCTTCT		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
C22orf42_chr22_32144006_32164303	32145533	A A	AATATATT others(420): Show AATATATTATATTATATAATGATATATAATATATTATATTATATAATGAT ATATAATATATTATATTATATAATGATATATAATATATTATATTATATAA TGATATATAATATATTATATTATATAATGATATATAATATATTATATTAT ATAATGATATATAATATATTATATTATATAATGATATATAATATATTATA TTATATAATGATATATAATATATTATATTATATAATGATATATAATATAT TATATTATATAATGATATATAATATATTATATTATATAATGATATATAAT ATATTATATTATATAATGATATATAATATATTATATTATATAATGATATA TAATATATTATATTATATAATGATATATAATTTATTATATTATATAATGA TATATAATTTATTATATTATATAATGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0031 a0002c0006t0002g0031	1	398	0.0025	427	c.40 others(438): Show c.4006_*4007insATCATTATATAATATAATAAATTATATATCATTA TATAATATAATAAATTATATATCATTATATAATATAATATATTATATATC ATTATATAATATAATATATTATATATCATTATATAATATAATATATTATA TATCATTATATAATATAATATATTATATATCATTATATAATATAATATAT TATATATCATTATATAATATAATATATTATATATCATTATATAATATAAT ATATTATATATCATTATATAATATAATATATTATATATCATTATATAATA TAATATATTATATATCATTATATAATATAATATATTATATATCATTATAT AATATAATATATTATATATCATTATATAATATAATATATTATATATCATT ATATAATATAATATATTATATATCATTATATAATATAATATAT		C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding					3472		chr22	TogoVar
C2CD4C_chr19_400445_414147	404311	G G	GTGTGGGG others(420): Show GTGTGGGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGGGGACG GGGCCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGGCCCTGTCCTGAGGG GTGTGAGGGGGAGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGGACGG GGCCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGGT GTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTC CTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTG GGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGAGGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGA GGGGGGGACGGGTCCTGCCCCGAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0091 a0001c0004t0091	a0001c0004t0091g0053 a0001c0004t0091g0053	1	322	0.0031	427	c.27 others(438): Show c.2784_*2785insACCCCTCGGGGCAGGACCCGTCCCCCCCTCAGAC CCCTCAGGGCAGGACCCCGTCCCCCCCCTCACACCCCTCAGGGCAGGACC CCGTCCCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCCACACC CCTCAGGGCAGGACCCCGTCCCCCCCCCACACCCCTCAGGGCAGGACCCC GTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCTCACACCCCT CGGGGCAGGACCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTCC CCCCCCTCACACCCCTCGGGGCAGGACCCGTCTCCCCCTCACACCCCTCA GGACAGGGCCCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTCCC CCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCCCACA		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1133		chr19	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(420): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACG GGAGACAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACAGGGAGAG GGAGAGGGAGACGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0266 a0001c0001t0004g0266	1	386	0.0026	427	c.803 others(441): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGA GACAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACAGGGAGAGGGA GAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG		CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(420): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCCTCCCCTCCCCTCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCTCCCCTCCCCTCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCT TCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0154 a0001c0001t0013g0154	1	256	0.0039	427	c.-45 others(448): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCCCTCCCCTCCCCTCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTC TCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCC		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP97D2_chr13_114174257_114228085	114198847	T T	TGCTTACG others(420): Show TGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTC CCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGG GTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCG TCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTT ACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGC TGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGAC GGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCC GTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGT CCCCGCTGAGGGGTGACGGCGCGTCCCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0085 a0001c0001t0005g0085	1	400	0.0025	427	c.172 others(444): Show c.172-1477_172-1476insCTTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTG CTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCC CGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGT GACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTC CCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTAC GGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTG AGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGG CGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCG		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
CLPTM1L_chr5_1312752_1350099	1333123	C C	CGGATGAG others(420): Show CGGATGAGGATAAGGGGGGACTACTGTAGACACACGGGATGAGGATAAGG GGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATA CACATTGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGA TAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGGACTACT GTATACACACACGGGATGAGGATAAGGGGGGACTACTGTATACACACCGG ATGAGGATAAGGGGGACTACTGTATACACATTGGATGAGGATAAGGGGGG ACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTAGACACA CCGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAG GGGGGACTACTGTATACACACCAGATGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	370	0.0027	427	c.891 others(444): Show c.891+1165_891+1166insTCATCTGGTGTGTATACAGTAGTCCCCC CTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGG TGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGT CCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCTTATCCTCAT CCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTGTATAC AGTAGTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCCTTA TCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCAATGTG TATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCC CCTTATCCTCATCCCGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCC		CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16						chr5	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGGGG others(420): Show TGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGGGAGGGGA GGGGAGGGGGAGAGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGA GGGGGAGAGGAGGGGGAGGGGAGAGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0017 a0001c0001t0039g0017	1	126	0.0079	427	c.416 others(448): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCCCTCCTCTC CCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCT CCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCC CTC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(420): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGG GGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	367	0.0027	427	c.-42 others(438): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGGTGGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGA GGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGAGGGAGT TGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding					4177		chr16	TogoVar
DEPDC5_chr22_31749019_31913033	31903383	C C	CCACCTTC others(420): Show CCACCTTCCATACCTAAACCCTCCCACCTTCCACACCTAAACCCCCACCT TCCACACCTAAACCCCCTTATCTTCCACACCTAAACCCCCACCTTCCACA CCTATTCCCTCAACCTTCCATACCTAAACCCCCCCCACCTTCGACACCTA AACCCCGCTACCTTCCACACCTAAACTCCCACCTTCTATACCTCCACTTT CCACACCTAAACCCCCCTACCTTCCATACCTAAACCCCCCACCTTCCACA TCTAAATCCCCCACCTTCCACACCTAAACCCCCACCTTCTGTACCTCCAC CTTCCACACCTAAACCTTCTATACCACCTTCTATACCTCCATCTTCCACA CCTAAACCCCCCACCTTCTACACCTAAACCCCCCACCTTCCACAACTAAA CCCCCCACCTTCCACACCTAACCCCCCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02258.hp1 others(2): Show HG01516.hp2 HG01517.hp1 HG02258.hp1 NA18948.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0005c0015 a0001c0001 a0005c0006 a0005c0015	a0001c0001t0001 a0005c0006t0009 a0005c0015t0009 a0001c0001t0001 a0005c0006t0009 a0005c0015t0009	a0001c0001t0001g0145 a0005c0006t0009g0007 a0005c0006t0009g0009 others(2): Show a0001c0001t0001g0145 a0005c0006t0009g0007 a0005c0006t0009g0009 a0005c0006t0009g0010 a0005c0015t0009g0008	5	204	0.0245	427	c.443 others(446): Show c.4436+1582_4436+1583insACCTTCCATACCTAAACCCTCCCACC TTCCACACCTAAACCCCCACCTTCCACACCTAAACCCCCTTATCTTCCAC ACCTAAACCCCCACCTTCCACACCTATTCCCTCAACCTTCCATACCTAAA CCCCCCCCACCTTCGACACCTAAACCCCGCTACCTTCCACACCTAAACTC CCACCTTCTATACCTCCACTTTCCACACCTAAACCCCCCTACCTTCCATA CCTAAACCCCCCACCTTCCACATCTAAATCCCCCACCTTCCACACCTAAA CCCCCACCTTCTGTACCTCCACCTTCCACACCTAAACCTTCTATACCACC TTCTATACCTCCATCTTCCACACCTAAACCCCCCACCTTCTACACCTAAA CCCCCCACCTTCCACAACTAAACCCCCCACCTTCCACACCTAACCCCCCT C		DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42					INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPDC5_chr22_31749019_31913033	31903383	C C	CCCACCTT others(420): Show CCCACCTTCCATACCTAAACCCTCCCACCTTCCACACCTAAACCCCCACC TTCCACACCTAAACCCCCTTATCTTCCACACCTAAACCCCCACCTTCCAC ACCTATTCCCTCAACCTTCCATACCTAAACCCCCCCACCTTCGACACCTA AACCCCGCTACCTTCCACACCTAAACTCCCACCTTCTATACCTCCACTTT CCACACCTAAACCCCCCTACCTTCCATACCTAAACCCCCCACCTTCCACA TCTAAATCCCCCACCTTCCACACCTAAACCCCCACCTTCTGTACCTCCAC CTTCCACACCTAAACCTTCTATACCACCTTCTATACCTCCATCTTCCACA CCTAAACCCCCCACCTTCTACACCTAAACCCCCCACCTTCCACAACTAAA CCCCCCACCTTCCACACCTAACCCCCCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02109.hp1 HG02280.hp1 others(13): Show HG01192.hp1 HG02109.hp1 HG02280.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02976.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0019t0002	a0001c0001t0001g0120 a0001c0001t0002g0004 a0001c0001t0002g0005 others(13): Show a0001c0001t0001g0120 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0005g0094 a0001c0001t0005g0117 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0159 a0001c0001t0005g0197 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0019t0002g0026	16	204	0.0784	427	c.443 others(446): Show c.4436+1591_4436+1592insTACCTAAACCCTCCCACCTTCCACAC CTAAACCCCCACCTTCCACACCTAAACCCCCTTATCTTCCACACCTAAAC CCCCACCTTCCACACCTATTCCCTCAACCTTCCATACCTAAACCCCCCCA CCTTCGACACCTAAACCCCGCTACCTTCCACACCTAAACTCCCACCTTCT ATACCTCCACTTTCCACACCTAAACCCCCCTACCTTCCATACCTAAACCC CCCACCTTCCACATCTAAATCCCCCACCTTCCACACCTAAACCCCCACCT TCTGTACCTCCACCTTCCACACCTAAACCTTCTATACCACCTTCTATACC TCCATCTTCCACACCTAAACCCCCCACCTTCTACACCTAAACCCCCCACC TTCCACAACTAAACCCCCCACCTTCCACACCTAACCCCCCTCCACCTTCC A		DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42					INFO_REALIGN_3_PRIME	chr22	TogoVar
DIDO1_chr20_62872743_62931505	62875320	C C	CCACCCCC others(420): Show CCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCCGACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCCACCCCCACCCGCACCCGCACCCCCACC CCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCC CACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCA CCCCCACCCGCACCCCCACCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG02622.hp2 others(2): Show HG01243.hp1 HG01255.hp1 HG02622.hp2 HG02630.hp2 HG03130.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0005 a0005c0005t0002g0126 a0005c0005t0002g0128 a0005c0005t0002g0005 a0005c0005t0002g0126 a0005c0005t0002g0128	5	320	0.0156	427	c.39 others(438): Show c.3912_*3913insCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGG GGTGCGGGTGCGGGTGGGGGTGGGGGGTGGGGGTGGGGGTGCGGGTGGGG GTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGT GGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGCGGGTGC GGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTCGGGGTGGGGGTGGGG GTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2422		chr20	TogoVar
DYNC2I1_chr7_158851558_158951189	158950508	G G	GGGGACCA others(420): Show GGGGACCAGCCTCTATGCGATTCCAGGTGTTCTATATGATTCCAGGTGTG ATATACTGCACGGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGA TTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATATGATTCCAGGT GTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATA TGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGAC CAGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATAC TGCACCGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAG GTGTGATATACTGCACCGGGACCAGCCTCTATATGATTCCAGGTGTTCTA TATGATTCCAGGTGTGATATACTGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0018 a0001c0024t0018	a0001c0024t0018g0112 a0001c0024t0018g0112	1	274	0.0037	427	c.47 others(438): Show c.4729_*4730insGGGACCAGCCTCTATGCGATTCCAGGTGTTCTAT ATGATTCCAGGTGTGATATACTGCACGGGGACCAGCCTCTATACGATTCC AGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTC TATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCG GGACCAGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGAT ATACTGCACCGGGACCAGCCTCTATATGATTCCAGGTGTTCTATATGATT CCAGGTGTGATATACTGCACCGGGACCAGCCTCTATACGATTCCAGGTGT TCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATATG ATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACC		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding					4320		chr7	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(420): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACG GGAGACAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACAGGGAGAG GGAGAGGGAGACGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0004 a0005c0012t0004	a0005c0012t0004g0156 a0005c0012t0004g0156	1	370	0.0027	427	c.39 others(438): Show c.3959_*3960insTCTCCCTCTCCCTCTCGTCTCCCTCTCCCTCTCC CTGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCT CTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGT CTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTGTCTCCCGTCTC CCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTG TCTCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCT CCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCT CTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCC		FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding					3575		chr2	TogoVar
FLT4_chr5_180596506_180654600	180615696	T T	TTCTCCAC others(420): Show TTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTC CACTTCCTTTTGGAGCACTGGGGCCTGCCGGTCACCTCCCTTCTCCACTT CCGAAATCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTT CTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCA CCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCC CGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTTGGAGCA CTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTT TTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGA ACACTGTGGCCCCGCTGGTCAACTCCCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp1 HG02809.hp2 others(3): Show HG01167.hp1 HG02109.hp1 HG02809.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp1	a0008 a0027 a0028 a0008 a0027 a0028	a0008c0014 a0008c0045 a0027c0064 others(1): Show a0008c0014 a0008c0045 a0027c0064 a0028c0046	a0008c0014t0002 a0008c0014t0009 a0008c0045t0009 others(2): Show a0008c0014t0002 a0008c0014t0009 a0008c0045t0009 a0027c0064t0009 a0028c0046t0009	a0008c0014t0002g0374 a0008c0014t0009g0301 a0008c0014t0009g0302 others(3): Show a0008c0014t0002g0374 a0008c0014t0009g0301 a0008c0014t0009g0302 a0008c0045t0009g0376 a0027c0064t0009g0327 a0028c0046t0009g0287	6	388	0.0155	427	c.321 others(444): Show c.3219+670_3219+671insTGGGAGTTGACCAGCGGGGCCACAGTGT TCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAA AAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAG TGCTCCAAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCG GGGCCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGGAGAAGGGAGG TGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGATTTCGGAAGTGGAG AAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGATTTCGG AAGTGGAGAAGGGAGGTGACCGGCAGGCCCCAGTGCTCCAAAAGGAAGTG GAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGA		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29						chr5	TogoVar
FLT4_chr5_180596506_180654600	180616008	C C	CGGTCACC others(420): Show CGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTG GGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTT GGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCAC TTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCT TTCGGAACACTGTGGCCCCGCTGGTCAACTCCCATCTCCACTTCCGAAAT CCACTTCCTTTCGGAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACT TCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTT TCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCC ACTTCCTTTCGGAGCACTGGGTCCCGCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0032 a0002c0002t0004g0032	1	388	0.0026	427	c.321 others(444): Show c.3219+358_3219+359insAGCGGGACCCAGTGCTCCGAAAGGAAGT GGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCGA AAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCGAAAGGA AGTGGAGAAGGGAGGTGACCGGCGGGGCCCAGTGCTCCGAAAGGAAGTGG ATTTCGGAAGTGGAGATGGGAGTTGACCAGCGGGGCCACAGTGTTCCGAA AGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAA GTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCC AAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCGGGGCCC CAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACC		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29						chr5	TogoVar
FSIP1_chr15_39595031_39787841	39702423	T T	TAAAACTA others(420): Show TAAAACTACTTTTTTTTTTTTTTTTTTTTCTATCAAATGTGGTTTTTTTA TTCAACAACTGACAAGCACTTTTCTACAGCTGCACTTGTGGAACATCACA TGGCAAAAACAGGAGTTTTTTCGCTAGACTTTTTTTTCTTTTTAACCTTA TTAAAAATGAGATTGGTCCTAAAAATATAGAAAGAAATAAATTTAAATTC ACAAAAAACTGTACATTATCAAAAAGTCACTAAAACACCACATTTGGTTA TATAAAAAGTCCCTTTTGCTGTAAAAGGAACACAGAAACTTGTTGGTGTT GATGGTGTGGTTTCTTCCTGTCAACCAGACTGATGGGAGGGAAGCAAAAG GGCAGGGGGTGGGTTGTCTTTTTATTTTAAACCTGCTTTCCCTACCAAAT ACTCTTGAGCTAGGTGGATTTTCTCTTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03579.hp1 HG03486.hp1 HG03579.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0002 a0003c0002t0001 a0003c0002t0002	a0003c0002t0001g0126 a0003c0002t0002g0125 a0003c0002t0001g0126 a0003c0002t0002g0125	2	254	0.0079	427	c.118 others(448): Show c.1188+11020_1188+11021insGAAGAGAAAATCCACCTAGCTCAA GAGTATTTGGTAGGGAAAGCAGGTTTAAAATAAAAAGACAACCCACCCCC TGCCCTTTTGCTTCCCTCCCATCAGTCTGGTTGACAGGAAGAAACCACAC CATCAACACCAACAAGTTTCTGTGTTCCTTTTACAGCAAAAGGGACTTTT TATATAACCAAATGTGGTGTTTTAGTGACTTTTTGATAATGTACAGTTTT TTGTGAATTTAAATTTATTTCTTTCTATATTTTTAGGACCAATCTCATTT TTAATAAGGTTAAAAAGAAAAAAAAGTCTAGCGAAAAAACTCCTGTTTTT GCCATGTGATGTTCCACAAGTGCAGCTGTAGAAAAGTGCTTGTCAGTTGT TGAATAAAAAAACCACATTTGATAGAAAAAAAAAAAAAAAAAAAAGTAGT TTT		FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	10/11						chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241807931	T T	TCCCTCCC others(420): Show TCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC GTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCTCAGCCCAGGGACCTCCGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0239 a0003c0003t0001g0239	1	314	0.0032	427	c.37 others(438): Show c.3765_*3766insCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCC ACCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCA		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3645		chr2	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(420): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTC TCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT TCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCC CCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCCCTCCCCTTCCCCTCC TTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCC CTTCCCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTC CCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCTTTCC CCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTC CCCCTTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0180	1	290	0.0035	427	c.972 others(442): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCCCCTTCCCCACCTTCCCCCTCCCCCTT CCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCC CCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTC CCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTCCCC		GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
GPIHBP1_chr8_143208218_143222170	143218360	C C	CACCACCC others(420): Show CACCACCCCCACACCACCCCCACACCACCCCCACACCACCCCCAACACCA CCCCCACACCACCCCCAACACCACCCCCACACCACCCCCACACCACCCCC AACACCATCCCCAACACCACCCCCACACCACCCCCACACCACCCCCACAC CACCCCCACACCACCCCCAACACCACCCCCACACCACCCCAACACCACCC CCACACCACCCCCACACCACCCCAACACCACCCCAACACCACCCCCAACA CCCCCCCCCACCACCCCAACACCACCCCCACACCACCCCAACACCACCCC AACACCACCCCCAACACCACCCCCACACTGCCCCCACACCACCCCCAACA CCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCAC CCAACACCATGCCCCACACCACCCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	106	0.0094	427	c.28 others(438): Show c.2842_*2843insACCACCCCCACACCACCCCCACACCACCCCCACA CCACCCCCAACACCACCCCCACACCACCCCCAACACCACCCCCACACCAC CCCCACACCACCCCCAACACCATCCCCAACACCACCCCCACACCACCCCC ACACCACCCCCACACCACCCCCACACCACCCCCAACACCACCCCCACACC ACCCCAACACCACCCCCACACCACCCCCACACCACCCCAACACCACCCCA ACACCACCCCCAACACCCCCCCCCACCACCCCAACACCACCCCCACACCA CCCCAACACCACCCCAACACCACCCCCAACACCACCCCCACACTGCCCCC ACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACAC CACCCCCAACACCACCCAACACCATGCCCCACACCACCCCCAA		GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding					1191		chr8	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTCTGGT others(420): Show ACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTAC ACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATT CTCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACC CCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCC ATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGG AGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCC CCTACACCACCTTCCCCACCCCGAGACT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	370	0.0027	427	c.134 others(444): Show c.1344+327_1344+328insCTGGTGGAGATGCTGGGCCTCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGA GATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCC CTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTT CATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCC CACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCC CTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCT		GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP6_chrX_299759_323796	321891	C C	CAAAAAAA others(420): Show CAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGT TTGACACCAGCCTGGGCAACATGGTAAGACCCCTTCTCTACCCTCCCCCC CAAAAAAAAAATTTTAGTGTGGCATGGTGGTGGGTGCCTGTGGTCCCAGC TACTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACAC CAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAA AGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGAC GCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGC AATATGGTAAGACCCTATTATCTACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0004 a0018c0027t0004	a0018c0027t0004g0083 a0018c0027t0004g0083	1	155	0.0065	427	c.-31 others(438): Show c.-3105_-3104insTTTGTAGATAATAGGGTCTTACCATATTGCCCAT GCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCG AGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTCTTTTTTT TTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCA AACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGTAGCTGGG ACCACAGGCACCCACCACCATGCCACACTAAAATTTTTTTTTTGGGGGGG AGGGTAGAGAAGGGGTCTTACCATGTTGCCCAGGCTGGTGTCAAACTCCT GGGCTCAAGCGATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAG GCACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTT		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					3096		chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TGGAATAT others(420): Show TGGAATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATGGAATATATATGGAATACA TATATATGGAATATATATATGGAATACATATATATGGAATACATATATAT GGAATACACATATGGAATACATATATATGGAATACATATATGGAATACAT ATATATGGAATACATATATGGAATACATATATATGGAATACATATATGGA ATACATATATATGGAATACATATATGGAATACATATATATGGAATACATA TATGGAATACATATATATGGAATACATATATGGAATACATATATGTGGAA TACATATATGGAATATATATATATGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0033 a0002c0004t0002g0033	1	323	0.0031	427	c.-21 others(438): Show c.-2147_-2146insGGAATATATATATGGAATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATGGAATACATATATATGGAATATATATATGGAATACATATATAT GGAATACATATATATGGAATACACATATGGAATACATATATATGGAATAC ATATATGGAATACATATATATGGAATACATATATGGAATACATATATATG GAATACATATATGGAATACATATATATGGAATACATATATGGAATACATA TATATGGAATACATATATGGAATACATATATATGGAATACATATATGGAA TACATATATGTGGAATACATATATGGAATATATATATATGTGG		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2060		chr21	TogoVar
KANK1_chr9_499695_751103	514123	T T	TCTCCCTC others(420): Show TCTCCCTCCTTCTCTCCCTCTCTCCCTCCCTCCCTTCCTTCCTTCCTCCC TCCCTTCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTC TCTCCCTCCCTCCCTCCCTTCCCTCTCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTCTCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCC TCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTC TCTCCCTTCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCC TCTCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCACTCCCTC CCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCCTCC CTCTCTCCCTCCCTTCCTCTCTCCCTTC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0006 a0005c0004t0006	a0005c0004t0006g0224 a0005c0004t0006g0224	1	254	0.0039	427	c.-84 others(444): Show c.-84+9372_-84+9373insCCTCCTTCTCTCCCTCTCTCCCTCCCTC CCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCTCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTTCCCTCTCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTTCCTC CCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCTCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTCTCTCCCTTCC TCCCTCCCTCACTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTC CCTCCCTCCCTCCCCTCCCTCTCTCCCTCCCTTCCTCTCTCCCTTCCTC		KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
KBTBD11_chr8_1968677_2011936	1969678	T T	TATAAATA others(420): Show TATAAATATATAAATATATAAATATATACATATATAAATATATGAATATA TAAAATATATAAATATATAAATATATAAATATATATAAATAAATATATAA ATATATACAAATATATAAATAAATATATAAATATATAAATATAAATATTT ATAGATATATAGATTTTACGTTTAAAATATATATTTTATAGATTTTATAT TTAAAATATATATTTATAGATTTTATATTTAAAAATATATTTTATATATT TTATACATAAAATATAATATATAAAATATATAAATCATATAAAATTTATA TTTTATGTATAAATATAAATGAATATAAAAATATATTATATGTTATATAT TATATATTATTATGTTATATATTATGTATTATATTATATATATTATAATA TGTATTATATTATATATTATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	389	0.0026	427	c.-51 others(438): Show c.-5166_-5165insATAAATATATAAATATATAAATATATACATATAT AAATATATGAATATATAAAATATATAAATATATAAATATATAAATATATA TAAATAAATATATAAATATATACAAATATATAAATAAATATATAAATATA TAAATATAAATATTTATAGATATATAGATTTTACGTTTAAAATATATATT TTATAGATTTTATATTTAAAATATATATTTATAGATTTTATATTTAAAAA TATATTTTATATATTTTATACATAAAATATAATATATAAAATATATAAAT CATATAAAATTTATATTTTATGTATAAATATAAATGAATATAAAAATATA TTATATGTTATATATTATATATTATTATGTTATATATTATGTATTATATT ATATATATTATAATATGTATTATATTATATATTATATAATATA		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding					3998		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATAAATA others(420): Show TATAAATATATACATATATAAATATATGAATATATAAAATATATAAATAT ATAAATATATAAATATATATAAATAAATATATAAATATATACAAATATAT AAATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAG ATTTTATGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATA TTTATAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAA TATAATATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAA ATATAAATGAATATAAAAATATATTATATGTTATATATTATATATTATTA TGTTATATATTATATATTATTATATTATATATATTATAATATGTATTATA TTATATATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01891.hp1 HG01934.hp2 others(10): Show HG01261.hp2 HG01891.hp1 HG01934.hp2 HG02109.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02965.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp2 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0014 a0001c0001t0019 others(2): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0019 a0001c0001t0033 a0001c0002t0011	a0001c0001t0004g0017 a0001c0001t0004g0290 a0001c0001t0004g0295 others(10): Show a0001c0001t0004g0017 a0001c0001t0004g0290 a0001c0001t0004g0295 a0001c0001t0004g0297 a0001c0001t0004g0359 a0001c0001t0014g0116 a0001c0001t0014g0117 a0001c0001t0014g0118 a0001c0001t0014g0119 a0001c0001t0019g0293 a0001c0001t0033g0292 a0001c0002t0011g0017 a0001c0002t0011g0296	13	389	0.0334	427	c.-51 others(438): Show c.-5160_-5159insATAAATATATACATATATAAATATATGAATATAT AAAATATATAAATATATAAATATATAAATATATATAAATAAATATATAAA TATATACAAATATATAAATAAATATATAAATATATAAATATAAATATATA TTTATAGATATATAGATTTTATGTTTAAAATATATATTTTATAGATTTTA TATTTAAAATATATATTTATAGATTTTATATTTAAAAATATATTTTATAT ATTTTATACATAAAATATAATATATAAAATATATAAATCATATAAAATTT ATATTTTATGTATAAATATAAATGAATATAAAAATATATTATATGTTATA TATTATATATTATTATGTTATATATTATATATTATTATATTATATATATT ATAATATGTATTATATTATATATTATATAATATAAAATATAAA		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding					3992		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATAAATA others(420): Show TATAAATATATACATATATAAATATATGAATATATAAAATATATAAATAT ATAAATATATAAATATATATAAATAAATATATACATATATACAAATATAT AAATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAG ATTTTACGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATA TTTATAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAA TATAATATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAA ATATAAATGAATATAAAAATATATTATATGTTATATATTATATATTATTA TGTTATATATTATATATTATTATATTATATATATTATAATATGTATTATA TTATATATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01928.hp2 HG01934.hp1 others(2): Show HG01358.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0053 a0001c0001t0002 a0001c0001t0005 a0001c0001t0053	a0001c0001t0002g0076 a0001c0001t0005g0170 a0001c0001t0005g0173 others(2): Show a0001c0001t0002g0076 a0001c0001t0005g0170 a0001c0001t0005g0173 a0001c0001t0005g0352 a0001c0001t0053g0172	5	389	0.0129	427	c.-51 others(438): Show c.-5160_-5159insATAAATATATACATATATAAATATATGAATATAT AAAATATATAAATATATAAATATATAAATATATATAAATAAATATATACA TATATACAAATATATAAATAAATATATAAATATATAAATATAAATATATA TTTATAGATATATAGATTTTACGTTTAAAATATATATTTTATAGATTTTA TATTTAAAATATATATTTATAGATTTTATATTTAAAAATATATTTTATAT ATTTTATACATAAAATATAATATATAAAATATATAAATCATATAAAATTT ATATTTTATGTATAAATATAAATGAATATAAAAATATATTATATGTTATA TATTATATATTATTATGTTATATATTATATATTATTATATTATATATATT ATAATATGTATTATATTATATATTATATAATATAAAATATAAA		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding					3992		chr8	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(420): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGAGTGGAAGAGGAAG AGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGGG AGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAG AGGAAGAGGAAGAAGGAGGAGGAGGAAAGAAGATGAATAAGAGGAGGAGG AGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGG GGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGA GGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0019 a0019	a0019c0018 a0019c0018	a0019c0018t0001 a0019c0018t0001	a0019c0018t0001g0055 a0019c0018t0001g0055	1	316	0.0032	427	c.583 others(442): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCC TCCTCCTCTTATTCATCTTCTTTCCTCCTCCTCCTTCTTCCTCTTCCTCT TCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCC CCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCT TCCTCTTCCACTCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCC TGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCT CCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC		KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6						chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(420): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGGG AGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAG AGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAG GAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGG GGGAGGAGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGA GGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	316	0.0032	427	c.583 others(442): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCTCCTCCCCC TCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCT CCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCT TCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCC CCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCTCCTTCTTCCTCTT CCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCC TGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCT CCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC		KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6						chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(420): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGGG GAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGGAGGAGGAGGAAGA GGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	316	0.0032	427	c.583 others(442): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTC CTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTT CATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCC CCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTT CCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCC TGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCT CCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC		KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6						chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(420): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAG GAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGGA GAAAATGAGGAAGAGGAGGAGGGGGGAGGAGGAGGAGGAGGGGAGGAGGG GGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGA GGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0112 a0011c0016t0001g0112	1	316	0.0032	427	c.583 others(442): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCTTCCTCATTTTCTC CTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCT CATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCC CCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTT CCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCC TGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCT CCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC		KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6						chr19	TogoVar

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