Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
DGKH_chr13_42043648_42247896	42159244	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00408.hp2 HG00544.hp1 others(76): Show HG00099.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG02055.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02818.hp2 HG02976.hp1 HG03486.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp2 NA19084.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0011 a0013	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0002c0005 a0006c0017 a0008c0019 a0011c0028 a0013c0030	a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 others(31): Show a0001c0001t0016 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0002t0018 a0001c0002t0020 a0001c0002t0023 a0001c0002t0066 a0001c0002t0096 a0001c0002t0097 a0001c0002t0102 a0001c0003t0006 a0001c0003t0013 a0001c0003t0050 a0001c0003t0106 a0001c0003t0124 a0001c0004t0047 a0001c0004t0075 a0001c0006t0001 a0001c0006t0004 a0001c0006t0022 a0001c0006t0036 a0001c0013t0001 a0002c0005t0001 a0002c0005t0003 a0002c0005t0007 a0002c0005t0008 a0002c0005t0037 a0002c0005t0105 a0006c0017t0041 a0008c0019t0047 a0011c0028t0001 a0013c0030t0018	a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 others(76): Show a0001c0001t0016g0286 a0001c0002t0001g0027 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0072 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0104 a0001c0002t0001g0113 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0146 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0183 a0001c0002t0001g0191 a0001c0002t0001g0241 a0001c0002t0001g0253 a0001c0002t0004g0169 a0001c0002t0005g0229 a0001c0002t0012g0073 a0001c0002t0012g0203 a0001c0002t0018g0126 a0001c0002t0018g0171 a0001c0002t0020g0124 a0001c0002t0020g0125 a0001c0002t0023g0119 a0001c0002t0066g0176 a0001c0002t0096g0060 a0001c0002t0097g0306 a0001c0002t0102g0185 a0001c0003t0006g0174 a0001c0003t0006g0175 a0001c0003t0006g0196 a0001c0003t0006g0305 a0001c0003t0006g0307 a0001c0003t0006g0308 a0001c0003t0013g0015 a0001c0003t0050g0311 a0001c0003t0106g0133 a0001c0003t0124g0236 a0001c0004t0047g0112 a0001c0004t0075g0184 a0001c0006t0001g0105 a0001c0006t0001g0168 a0001c0006t0004g0062 a0001c0006t0004g0106 a0001c0006t0022g0107 a0001c0006t0022g0108 a0001c0006t0022g0285 a0001c0006t0036g0048 a0001c0006t0036g0189 a0001c0013t0001g0231 a0002c0005t0001g0053 a0002c0005t0001g0100 a0002c0005t0001g0101 a0002c0005t0001g0109 a0002c0005t0001g0110 a0002c0005t0001g0116 a0002c0005t0001g0138 a0002c0005t0001g0270 a0002c0005t0001g0271 a0002c0005t0001g0274 a0002c0005t0001g0291 a0002c0005t0003g0117 a0002c0005t0007g0045 a0002c0005t0007g0122 a0002c0005t0007g0128 a0002c0005t0007g0135 a0002c0005t0007g0137 a0002c0005t0008g0290 a0002c0005t0037g0292 a0002c0005t0105g0240 a0006c0017t0041g0121 a0008c0019t0047g0145 a0011c0028t0001g0054 a0013c0030t0018g0088	79	93	0.8495	11	c.623 others(23): Show c.623-13_623-3dupTTTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
DHDH_chr19_48928699_48949969	48939592	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02735.hp2 HG03209.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA20805.hp2	a0002 a0006 a0017 others(2): Show a0002 a0006 a0017 a0018 a0019	a0002c0002 a0002c0005 a0002c0024 others(7): Show a0002c0002 a0002c0005 a0002c0024 a0002c0025 a0006c0008 a0006c0019 a0006c0029 a0017c0026 a0018c0021 a0019c0030	a0002c0002t0001 a0002c0005t0001 a0002c0024t0001 others(7): Show a0002c0002t0001 a0002c0005t0001 a0002c0024t0001 a0002c0025t0001 a0006c0008t0001 a0006c0019t0001 a0006c0029t0001 a0017c0026t0001 a0018c0021t0001 a0019c0030t0001	a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0019 others(53): Show a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0028 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0063 a0002c0002t0001g0080 a0002c0002t0001g0087 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0176 a0002c0005t0001g0002 a0002c0005t0001g0009 a0002c0005t0001g0015 a0002c0005t0001g0166 a0002c0005t0001g0168 a0002c0005t0001g0169 a0002c0005t0001g0170 a0002c0005t0001g0171 a0002c0005t0001g0172 a0002c0005t0001g0173 a0002c0024t0001g0148 a0002c0025t0001g0070 a0006c0008t0001g0018 a0006c0008t0001g0027 a0006c0008t0001g0099 a0006c0008t0001g0107 a0006c0008t0001g0139 a0006c0008t0001g0140 a0006c0008t0001g0144 a0006c0019t0001g0143 a0006c0019t0001g0145 a0006c0029t0001g0003 a0017c0026t0001g0175 a0018c0021t0001g0068 a0019c0030t0001g0009	132	433	0.3049	1	c.517 others(4): Show c.517dupG	p.Ala others(5): Show p.Ala173fs	DHDH	ENSG00000104808.8	transcript	ENST00000221403.7	protein_coding	4/7	541/1064	518/1005	173/334	INFO_REALIGN_3_PRIME	chr19	TogoVar
DHRS11_chr17_36586879_36605804	36600156	CCA CCA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02486.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18997.hp1 NA19001.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp1 NA19068.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0086 a0002c0003t0001g0001	111	384	0.2891	-2	c.742 others(13): Show c.742-3_742-2delCA		DHRS11	ENSG00000278535.5	transcript	ENST00000618403.5	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr17	TogoVar
DIAPH2_chrX_96679842_97609997	96916417	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00621.hp1 others(53): Show HG00140.hp1 HG00280.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01192.hp1 HG01358.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02056.hp1 HG02132.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18953.hp1 NA18955.hp1 NA18961.hp1 NA18966.hp1 NA18970.hp1 NA18983.hp1 NA18989.hp1 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19056.hp1 NA19088.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 others(53): Show a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0140 a0001c0001t0003g0006 a0001c0001t0003g0049 a0001c0001t0004g0149 a0001c0001t0005g0038 a0001c0001t0006g0002 a0001c0001t0006g0007 a0001c0001t0007g0005 a0001c0001t0008g0040 a0001c0001t0008g0108 a0001c0001t0009g0042 a0001c0001t0010g0034 a0001c0001t0010g0104 a0001c0001t0011g0039 a0001c0001t0012g0003 a0001c0001t0012g0145 a0001c0001t0013g0013 a0001c0001t0014g0146 a0001c0001t0017g0106 a0001c0001t0018g0148 a0001c0001t0019g0143 a0001c0001t0021g0114 a0001c0003t0001g0116 a0001c0004t0001g0142	56	139	0.4029	1	c.733 others(6): Show c.733-3dupT		DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	7/26				INFO_REALIGN_3_PRIME	chrX	TogoVar
DIDO1_chr20_62872743_62931505	62926430	ACCGCAGG ACCGCAGG	A A	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(63): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01952.hp2 HG02027.hp1 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp1 NA18946.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19010.hp1 NA19056.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0015 a0016	a0001c0009 a0002c0002 a0003c0003 others(8): Show a0001c0009 a0002c0002 a0003c0003 a0003c0006 a0003c0019 a0003c0040 a0003c0041 a0003c0042 a0005c0005 a0015c0039 a0016c0038	a0001c0009t0001 a0002c0002t0001 a0003c0003t0001 others(8): Show a0001c0009t0001 a0002c0002t0001 a0003c0003t0001 a0003c0006t0001 a0003c0019t0001 a0003c0040t0001 a0003c0041t0001 a0003c0042t0001 a0005c0005t0002 a0015c0039t0001 a0016c0038t0002	a0001c0009t0001g0024 a0002c0002t0001g0230 a0003c0003t0001g0021 others(54): Show a0001c0009t0001g0024 a0002c0002t0001g0230 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0231 a0003c0003t0001g0234 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0240 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0247 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0264 a0003c0006t0001g0028 a0003c0006t0001g0029 a0003c0006t0001g0244 a0003c0006t0001g0245 a0003c0006t0001g0246 a0003c0006t0001g0248 a0003c0006t0001g0256 a0003c0019t0001g0235 a0003c0019t0001g0263 a0003c0040t0001g0239 a0003c0041t0001g0232 a0003c0042t0001g0233 a0005c0005t0002g0257 a0015c0039t0001g0241 a0016c0038t0002g0258	66	318	0.2075	-7	c.-20 others(20): Show c.-200+2_-200+8delCCTGCGG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding	1/15					chr20	TogoVar
DIPK1C_chr18_74429775_74462308	74457200	G G	T T	stop_gained stop_gained	HIGH	NA18966.hp2 NA19054.hp2 NA18966.hp2 NA19054.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0063 a0012c0013t0001g0064 a0012c0013t0001g0063 a0012c0013t0001g0064	2	482	0.0041	0	c.60C others(2): Show c.60C>A	p.Cys others(3): Show p.Cys20*	DIPK1C	ENSG00000187773.9	transcript	ENST00000343998.8	protein_coding	1/4	109/3035	60/1260	20/419		chr18	TogoVar
DMBT1_chr10_122555754_122648736	122581581	CAGAAATG others(12696): Show CAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGACCTTTGTCCCTGGAT GAGTTCACAGCACAGGAGACCTGGGAAGACACATGGGAAACAAATGGCAG GAACAAGAAGTGGAATTGTTGTCACGTTGATTCCTCCTCCCAGAGATCCT TTTGTTCTGTGCCTTTTCCCTTCAAGTCTAATTCTGTCTTTTCCTTTTGT TGCAATTTACAGATACTTGGCCGACCTCACATGCATCAACAGCAGGTAAA TAACCCTCTCACCCCTCCCTAGGACTCACTATCTCTGGACATATTTTGTG TTTGAAACTGATAGGATGAGGCTCAATGTGGGCTTCTCTGTTTTCATGTC CCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGAGGAGCCAGTCCTGG GTCTGATGTTTGAGGACGGAGGGTGTTGGTGACCTGTCTCCCATGGAATC CTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTGCTCAGGACGAGCA CTGGAGGGCTCCTTAATGCTGCTGGGACCTCATTCCTGGCCCTCAGGCCA TGGGATCCAGACCTCTGAAGAGCGGGTGAAAGTGCCGGTCCCTGCACCTG TGTGGCCAAGGCCTTGCCATCACTGGCAATTTGCCAGAAGGCAGAGAGGC CCATGCAGGTGCCAATAAGCTCCTGAATATGGAGGGGGTCTAGGCCTGTC ATTTGTAGCTGTGTAGCTCCATCCTGTGTTCACCCAGAGTGGGGAGTGGG GTGTCCATTCCTGTCCTCTCCTCTGGGGTCATACATGCTTACCCATAGCT TGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACTTTTTCCACTATGA CCAAGCTTAACCTCTGGGTGCAGCCATCTGCCATTGTGACTGCGTGCCCT GGTGACTTTGGCATTTGTATTCAAACTTGACTACTTTTCCCATTGCCCTG AGTGTTGTCCATGCCTTTTCCTTCACCTCAGAATGGAGATGGATGAAGGA TTCTTGTGTTCCCCTGTAGGACCTGAATCCAGTTTGGCCCTGAGGCTGGT GAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGAGGCT CCTGGGGCACCGTGTGTGATGATAGCTGGGACACCAGTGACGCCAATGTG GTCTGCCGGCAGCTGGGCTGTGGCTGGGCCACGTCAGCCCCAGGAAATGC CCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGATGACGTGCGCTGCT CAGGCTATGAGTCCTACCTGTGGAGCTGCCCCCACAATGGCTGGCTCTCC CATAACTGTCAGCACAGTGAAGACGCTGGTGTCATCTGCTCAGGTGGGCC TCCAAGACCTTGGGCTCCCTCTCTTGGGGTAGATTTTGCTCAGGAAGCGA GGTCTCATTATGTTCTGATCTCCTCACTCAGAGCTTTTTCAGCCTTTCCT ATATATCTGATATCTCCTTAGCTCTCTCCTAGGAAACTGCATGAGTCTTC ATTGCCAGGTTTTGAGGAGGTCAGGTAGGACAACGGGCCAAAGTGAAATA AGGGTCACGCCTTTGTTCACCTACCGAGGCAGCGCAAGCAGAGGGAGAAG AGGAAAGTGCCAGGTCTTTGCCTTTTAGTGTGGCTGGAAAGGAATAGCTG GGGCTGGTTTGTTCATGAGGAAAGAGGCTGATTTGGGTCTTGGCTTTGCA GGCTGCATAGGACCATGGTGCAGGCGTCTGCTCAGCTTCTGATGAGGGCC TCGGGCTGCTTGTACTCCTAGCAGAAAGGGATGGGGAGGTGGCCTGGGCA GAGGTCACAAGGTGAGGGAGGAAGGAAGAGAGAGCAAGAGGGAGGGCTCA GACTCTTCAACCACCAGCTCTTGCTAGGAACTAAGAGAAGAACTCACCCC TGACCAGGGAGGGCACTAAGTTATTCATGCAGTGTTGGTCTCCATGACCC AGACCTGGTGCATCAGGCCTCACCTCTAAACTTGGGGATTCAGTTGCAAT ATAACACTTGGATGTGACAAGCCTCTAAAGTATAGCACCCTGGCTCTCCA GGGTTCCATCTTTCCCCTACTGAAAGATTTTGCAAAGGGTTACATGGATG AAGCACATATAGAGGATGGGGGAGGGACTGTCTCCCTGGGAGGAGCCCAG AACCACAGGCTCCTGCTAGGAAGCGCGGTCTTCTGCTGAGGCCCAATAAG GTGATGTCTTAATAGAGACACAAGGCTAGGAGTGCGGATGTGTGTCTGTC CCTCTCTGGCCTGAGATTTGGGGGCTGTGAGTCCTTGACCACAACTCCCT CCAGAGCACTGCAGTGTCTTGCCTGTGCACCGGTCTGGTGTGGAGTGTGC AGTCCCCATGAGGTCTGCTAGGCAAAGCATTGTTATGAACGCCTGTGGGC TGGACTGGAACATCAGAGGCAGGACTTTGGCTGGAGTGGCCTCCTCACAT TTGCTAACTCAGGGACTGCTAAGACATGCAAGGGAGAGGGTAGGTTTTGT GTCAACCTGATTACTATGGGCAGACACAAGGTTAATCACCTTGGAGTTGG CAATAGTGGACAGGATCTGCCCAGACACCCTCCAAGGAGCATCTCTGTGG GGACATGCATGGCAATGCCCTCCCTCTGTGATGGGGACCTAGGGTGGACT GAAGGCATGATCTGTTTAGTTCCTTCCACCTTTGTTCCGATTTTGCCAGC TTCTGTATAGTGCATCTGATCTGACCTCCTCTTTCTCACAGCTGCCCACT CCTGGTCGACGCCCAGTCCAGGTGAGTCCCCAGTGTCCTTCCTTGGGATG TCCCTTCTCTTTCTGTATAATTATCCCTTTCTGCACTCCACAGAGCCCTC GTTCTTCTCTGAGTGAATACTACATGGCATACAATTTTCCCCTGCTCTGT AACTGAGACCCTGGAATGGCGCTTCTGAACCAGACATAGGGTTCAAGAGG CTTCTGTCTTCTGTTCCATTTATCTCAGCTTTCATGAAGCAGTTTCATAC TGTCCCAGTGGCCAACCCTTAGAGGTTTAGGAAGTGGCCTCATATTTAAA TAGCTTTGACCCTTTTCTATTCAGAGCTGATATGACCTTCCTGAGAATTG AGAGTGATTGCCAAAGTCTCCTCGGAAGCCAATGTCAGCTAAAGCCTTAA ACATGGCTGCCGCCATGGGCAAGCAATGTCAGTGCAGGCCTGACACCTCC CTTCCTCACTCCTTCCAACACCCAGATTCTGCAGCGCTACATGTGCATCC AGAAGAGGCATAGGCCATGCTCGGGCAGGGAGAGGGATAATAAATATTTC TGGTGCCTCCACTTACTGGGAAACTTGATACCCCTTTGGTCAGCTCCTTG GTTTCCCTAACGTTTTAGCTCGAGCTAGTAGAGTGTCAGCAATGGTGTTA GATGTACCCGTCAGTGCATGTGTCAGTGCATGGAACAGGCTAACCCTTTG TGACTGAGAAGAGGACATCCCACACTTCAGAGGCAGGAGGGATCGAACTG GTCTCCAGCAAGGCTTATGTCCCTTGCTGAGCTTGCTGAGCTGCAGACTT GGGCAGACACATGGGGAGCAAAGTGGCAGGAATCAGAAGTGGGGTAGTTT TCATGATGCTCGCCTTCTCCGGAGACTTTTCCTTTTGGAGATTTTCACCA TCAACTTTAATTCTAGCCTTTGTCTCTGTTGCAATTACAGACACGTTGCC GACCATCACCTTACCTGCATCGACAGTAGGTAAATAATCCTCTCGCCCCT CCCTAGGGCTCACTCTCTACCTCTGGACAAATGTTTTTTTCTGAAATGAT AGGATGAGGGTCAAGGTGGGCCCCTCTGTTTTTCATGTCCCTGTGGGTTG CATGGGAGGAAGGTAGAGTCTCTGGGGACCCAGCTGTGGGTCTGATGTTG GAGGCTGGAGGGTGCTGGTGACTTTTCTCCCGTGGAATCCTGTTCCAAGT GGTCAGGAAACATCCTCATCCAGGTGCCAAGGAAAAGCCCTGGAAGCTTC CCTAATCCTACTAAGACCTCATTCCTGTCCCTCAGCCCATGGGCTGCAGA GGTGTGAAGAGTCAGTGAAAGTGAGTGTCCCCACACCTGTCTGGCCAAGG CCTTGTCATACCTGTGAAATTTTCAGAAGCCAGACAGGACCATAGGATTG CCACCAAGCTCCTGAGATGGGGAGAGTCTGGCCTGCCTACTGTAGCTGTG TAGCTCCATCCTGTGTGTGCCCAGGTTAGGGAATGGGGTTTCCGTTCCTG TTAACTCCAGTAGGGTCACAGGTGCTTCCCCAAACTTGAGCCTTCATAAA CCCAGGCAGAACTGCTTCTTTGACTTTGATGAAGCTGAATCTCTGGTTTT ATTCATATTCAAAGGTGACTGCCTGCCCAGGTGACTTTAGCCATTAGGAC GTGCCTTGAGTGTGGAACATTCCTTAGATTCTTGACCTCATGATAGGGAT GGATGAAGGGTTCTTGTTTTCCCCTGTAGGATCTGAATCCAGTTTGGCCC TGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTA TACCGAGGCTCCTGGGGCACCGTGTGTGATGACAGCTGGGACACCAATGA TGCCAATGTGGTCTGCAGGCAGCTGGGCTGTGGCTGGGCCATGTTGGCCC CAGGAAATGCCCGGTTTGGTCAGGGCTCAGGACCCATTGTCCTGGATGAC GTGCGCTGCTCAGGGAATGAGTCCTACTTGTGGAGCTGCCCCCACAATGG CTGGCTCTCCCATAACTGTGGCCATAGTGAAGACGCTGGTGTCATCTGCT CAGGTGGGCCTCCAAGACTTTTGGTTTCCTCTCTTGGGGTAGATTTTGCT CAGGAAGGTTTTATTATGTTCTAATCTCCTCACTTAGAGCTTTTTCAACT TTTCCTATATTTCTGATACCTCCTTAGCTCTCTCCTAGGAAACCGCATGA GTCTTCACCACATTGCCAGGTTTTGAGGAGGTCAGAGAGGACAATGGGCC AAAGTGAAATAAGGGTCACACCTTTGTTCCCCTACTGAGGCAGCGCAAGC AGAGGGAGAAGACGAAAGCGCCGGGTCTTTGCCTTTTAGTGTGGCTGGAA AGGAATAGCTGGGGCCAGGTTGTTCATGAAGATAGAGGTTGATTTGGGTC TTGGGTCTTTGCAGGCTGCATAGGAGCATGGTGCAGGCATCTGCTCGGCT TCTGCTGAGGACCTCAGGCTGCTTGTACTCCTGGCAGAGGGGATGGGGAG CTGGCCTGGGCAGAGGTCACATGGCGAGGGATGAAGCAAGATGGCAGAAG AAGATGGGGAGGTGGCCTGGACAGAGGTCACATGGTGAGGGAGGAAGCAA GAAAGAGCAAGAGGGAGGGCCCAGACAGTTTTCAACCACCAGCTCTTTCT AGGAACTAAGAGAAGAACTTACCCCTGACCAGGGAGGACACTAAGTTATT CATGAAGAGTTGGCCTTCATGACCCAGACATGGCACATCAAGCCTCACCT CTATACTTGGGGATCCAATCCCAACATGAGTCTTAGATGGGACAAACATC CAAACTATAGCATGCTGCCTCTCCAGGGTTCCACCTTTCCCCTACTGAAA GGTTTAGGTGAGGGTGAGGTGGATGCAGCACATATAGGCATTGAGGGAGG GACGGTCTGACTGGGAGGATTCCAGAACCAAGGGCTCATGCTGGGAAGGG AGGGTTTTCTGCTGAGGACTAATAAGGAGGCATCAGACCGGAAACACAAG GCTGGGAGTGGAGATTCGTGACTGTCCATATCTGACCTGGGTTTTGGGGG TGTGAGTGCTTGATTGCAATTCCCTCCAGAGCACTGCAGTGTCTTGCCTG TGCACCGGTCAGGTGTGGGGCAGGCAGTGCCCATGAGGCTTACTGAGCAA AGCCTTGTTATGAATGCCTGTGGGCTGGGCTAGAAGATCACAGGCTGGAT ATTTTTTTTTTGCAGGAGTGGCCTCTTCATACTTGCTGACTCAGGGACTG CTAAGATGTGCAAGGGAGTGGGTTGGTTTTGTGTCAACCTGATTACTATG GGCAGACACAAAGTCCTTCAAACACCCCCAGATGCAGCAGGGCCCCATCT ACATGCGGAAAGGCAGAGGCCGTGCTCAGGCAAGGAGAGAGATATTAGAT ATTTCTGGTACCTCCACTTGCCAGGAGACTTTATACTCCTTTGGGCAGCT CCCTGATCCTTCTAACATTTTAGCTGTAACAATCAGAGGCTCAGCAATGG TGTCAGATGTGTCCATTAGTCCATGTGTCAGTGGATGGGGCAGGCAAACC CTTTGTAGCTGAGAAGAGGATATCCCACACTTCAGAGGTAGGAGGGATTG GACTGGTCTCCAGCGAGGCCTATGTCCCTTCCTGAGCTTACTGGGCTGAA GAGTTGGGCAGACACATGGGGAGCAAGTGGCAAAAACCAGAAATCCAGTA GTTTTCATGATGCTTGCCCTATCTGGAGACTTTTCCTTTTGGAGCTTTTC ACCCTCAAGTTTAATTCTAGCCTTTGTCTTTGTTGCAATTAAAGACACGT TGCCGACCACCACATTACCTGCATCAACAGTAGGTACAGAATCTTCTCAC CCCCACTAGGGCTCACTCTCTACTTCTGGACAAATGTTTTTTTCTGAAAA TGAGAGGATGAGGGTCAGGGTGGGTCCCTGTCTTTTTCATATCCCTGTGC ATTGAGTGGGAGGAAGTTGGAGTCTCTGGGGAGCCAGTCCTGCTTCTGGT GTTGGAGGGTAGAGGGGGCTGGTGACCTGTCTCCCTTGGGATCCTCTTCC AAGTATCAGGAAATAATAAAGAAAAAAAAAAAAGATCCTCATCCAGGTGC TGAGGACAAGCCCTGGAGGGCTCCCTACTCCTATTCGACCTCGTTCCTGG CCCTCCAGCCATGCACTGCAGACCTGCAAGGGTGGGTGACAGTTTCTGTC CCTGCAGCTGTCTGGCCAAAGCCTTGCCATCCTTGGCAATTTGCCAGAAG CCAGGGAGGACCATGGGGGTGCCACCTAACTCTTGAACATGGGGACAGCA TGGTCCTGCCCTCTGGAGCTGTGGAGCTCCATCCTGTGTGTGCCCAGAGT AGGGAGTCGGTTGTCTATTCCTGTCACCTCCACTGGGGTCACAGGTGCTT CCCCAAAACTTGAGCCTTCATAAACCCAAGGAGAATAGTGTATCACCTCT CCTTCTACTGTGATGAAGCTGAACCTCTGGTTGCAGTCATCTTTAATCGT GACTGCCTGCCCAGGTGACTTTGGCCATTAGGAAGTGCCCTGAGTGTGGA ATGTGCCTTAGATCCTTGACCTGCTGATAGGGATTGATGAAGGGTTCTTG TGTTCTCCTATAGGACCTGAATCCAGTTTGGCCCTGAGGCTGGTGAATGG AGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGAGGCTCTTGGG GCACCGTGTGTGATGACAGCTGGGACACCAATGATGCCAATGTGGTCTGC AGGCAGCTGGGCTGTGGCTGGGCCACGTCAGCCCCAGGAAATGCCCGGTT TGGTCAGGGCTCAGGACCCATTGTCCTGGATGATGTGCGCTGCTCAGGAC ATGAGTCCTACCTGTGGAGCTGCCCCAACAATGGCTGGCTCTCCCACAAC TGTGGCCATCATGAAGATGCTGGTGTCATCTGCTCAGGTGGGCCTCCAGC AATTTTGGTTTCCTCTCTTGGGGTAGATTTTGCCCAGGAAGAGAGGTCTT ATGTTCTAATCTCCTCACTCAGAGCTTTTTCAACCTTTCCTATGTTTCTG ATATCTCCTTAGCTCTCTTCTAGGAAACTGCATGAGTCTTCACCACAGTG CCAGGTTTTGAGGAGGTCAGAGAGGACAATGGGCCAAAGTGAAATAAGGG TCATGCCTTTGTTCCCCTACCAAGGCAGCGCAAGCAGAGGGAGAAGAGGA AAGGGCTGGGTCTTTGCATTTTAGTGTGGCTGGAAAGGAATGGCTGGGGT CAGGTTATTCATGAAGAAAGAGGCAGATTTGGGTCTTGGCTTTGCAGGCT GCATAGGAGCGTGGTATCTGCTTGGCTTCTGCTGACAGCCTCAGGCTGCT TGTGCTCCTGGCAGAAGGAGATGGGGAGGTGGCCTGAGCAGAGGTCACGT GGCAAGGGAGGAAGCAAGAGAGGGCAAGAAGGAAGGCCCAGGCTCTTTTC AACCACCAGTTCTTGCTAGAAACTAAGAGAAGAACTCACCCCTGATCAGG GAGGGCACTAAGTTGTTCATGAATGGTTGGCTTCCATGACCCAGACATGG CACATCAGGCCTCACCTCTATACTTGGGGATCCAATCCCAACATGAGTCT TGTATGGGACAAACATCCAATCTATAGCACACTGGCTCTCCAGGGTTCCA TCTTTCCCCCACTGAAAGGTTTAGGTGAGGGTGAGGTGGATGGAGCACAT ATAGGTGTTGGGGGACGGACGATCTCACCGGGAGGAGTCCAGAACCAAAG GCTTATGCTGGGAAGGGAGGGTCTTCCGCTGAGGCCCAGTAAGGAGGCAT CAGACTGGAAACACAAGGCTGGGAGTGCAGATCTGTGTCTGTCCAAGTCT GGCCTGGGTTTTGGGGGTGTGAGTGCTTGACTGCAATTCCCTCCAGAGCA CTGCAGCATCTTGCCTGTACACCAGTCAGGTGTAGGGCGGGCAGTGCCCA TTAGGGCTGCTGAGCAAAGCCTTGTTATGAATGCCTGTGGGCTGGGCTAG AAGATCACAGGCTGGATTTTTGCTGGAGTGGCCTCTTCATACTTGCTGAC TCAGGGACTGCTAAGACGTGTAAGGGAGAGGGTTGGTTTTGTGTCAACCT GATTACTGTGGGTAGACACAAACTTAATCACTTTGGAGCTGGCAGTAGTG GACAAGATCTGCCCAGATGCCTTTCAAGGAGCATCTTTGTGGGGACGTGC ATGGCAATGCCCCTCCCTCTGTGATGGGGACATAGGGTGGACTGAAGGCG CTACCAGTTTAGTTCCTTGTACCTTTGTTCTGGTTTTGCCAGCTTCTGTA TAGTGCATCTGATCTGACCTCCTCTTTCTCACAGCTGCCCAGTCCCGGTC GACGCCCAGGCCAGGTGAGTCCCCAGTGTCCTTCCTTGGGATGTCCCTTT TCTTTCTGCACAATTATCCTTTTTCCCATTCCACAGAGCCCTCCTTCTTA CCTGTGTGGATACTGTGGGTCATACTATTTTCCCTGCTCTGTAACTGAGA CCCTAGCATGGAGCTTCTTAACCAGACATGGTTAAGAAGGTATGATCTTT CTAAGAATTGAGAGTGATTGCCAAAGTCTCCTGGGAAGGCAATTTCAGCT AAAGCCTTAAACATGCCTGTCCATGGGCAAGAATGTCAGTGCAGGCCTGA TACCTCCATTCCTCACTCCTTCAGACACCCCCAGATGCGGCAGGGCCCCA TCTACCTCCAGACAGGCAGAGGCTGTGCTCAGGCAGGGAGAGCGATATTA GATATTTCCGTTGCCTCCACTTGCCAGGAGACTTTATACTCCCTTAGGCA GCTCCCTGATCCTTCTAACATTTTAGTTTCAAGCGTGAGAGGCTCAGCAT TGGTGTCAGATGTGCCCATCAGTCCATGTGTCAGTGGATGGGGCAGGTAA ACCCTTTGTAGCTGAGAAGAGGGTATTCCACACTTCAGAGGCAGGAGGGA TCGGACTGGTCTCCAGTGAGGACTATGTCCCTGGCTGTGCTTCCTGAGCT ACAGACTTGGGCAGACACATGGGGAGCAAGTGGCAGGAACTAGAAATGGA AGAATATTCATGATGCTTGCCTTGTCCAGAGACCTTTCCTTTTGGAGCTT TTCTCCCTCAACTTTAATTCTAGCCTTTGTCTTTGTTGCAATTTACAGAC ACGTTGTCGACCATCACGTTACCTCCATCGACAGTAGGTAAATAATCCTC TCACCCCTCCCTAGGGCTCACTCTCTACCTCTGGACAAATGTTTTCTCTG AAAATGATAGGATGAGGGTCAAGGTGGGCCCCTGTCTTTTTCACATCCCT GTGCGCTGAGTGGGAGGAAGTTGAGTCTCTGGGGAACCAGTCCCGGGTCG GGTGTTAGAGGGTGGAGGGTGTTGGTGACCTATCTCCTGTTGGACCGTGT TCCAAGTATCAGTAAAGATCCTCATTCAGGTGCTGGACAAACCCTGGAGA GCTCCCTACTCCTGGGACCTCATTCCTGGCCTTCTGGCCATGCATTGCAG ACCTGCAAGGGAGGGTGAAAATTTCTGTCCCTGCAGTTGTCTGGCCAATG TGTTGCCATCCCTGGCAATTTGCCAGAAGCCAGAGAGGACCACGTGGGTG CCACCAAACTCTTCGACATGGGGATAGCATAGGCCTGCCCTCTGGAGCAG TGGAGCTCCATCCTGTGTGTGCTCAGAGTAGGGAGTGGGGTGTCCATTCC TGTCACCTCCACTGGGGTCACAGGCGCTTTCCCAAAATCTGAGCCTCCAT AAACCCAGGCAGAATAGGGTATCACCTCTCCTTCCAGTATGATGAAGCTG AACCTCTGGTTGCAGTCGTATTCAATCGTGACTGCTTGTCCAGGCGACCT TGGCCATTAGGAAGTACCCTGAGTGTGGAACGTGCCTTAGATCCTTACCT CATGGTAGGGATGGATAAAGGGTTCTTGTGTTCCCCTGTAGGATCTGAAT CCAGTTTGACCCTGAGGCTGGTGAATGGAAGTGACAGGTGTCAGGGCCGA GTAGAGGTCCTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACAGCTG GGATACCAATGATGCCAATGTGGTCTGCAGGCAGCTGGGCTGTGGCTGGG CCACGTCGGCCCCAGGAAATGCCCGGTTTGGCCAGGGCTCAGGACCCATT GTTCTGGATGATGTGCGCTGCTCAGGACACGAGTCCTACCTGTGGAGCTG CCCCCACAATGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGATGCTG GTGTCATCTGCTCAGGTGGGCCTCCAAGACCTTGGGCTCCCTCTCCTAGA CTGGAGTTTGCTCAGGAAGAAAATCCTAATTACATTCTGATCTCCTCACT CAAAGATTCTTCTATGTTTCCTATATTTATGTAGTCTTGTTAGCTCTCTG CTAAGGATCTGTATGAATTTTACTACAGGGCTTGGTGTTCCTGTGGTCAC TTAGGACAGGCCCCAAACTGAAACAACAACCCAGACTTTATCCCCTTCCT GAGGCAGTGCAAGAAAGAGGCCGAAGAGAAAACTGCTGGCTCCCCAGGGT TCCATTTCTCCTCAGCTGAGTAGCACTGGGTGAGGGTATCATGGACATAG GACAGACAGCAAGGTAGGGGAGGAATCCTCTCACTGAGAGGAACTCTGAG CTAAAGATGCTTGTCTGAAAGTGAGTTCTCAGCTGAGACCCAGTGAGGAG GTCTGGAAATAGAGGCTCAAGGGTTAGGGGTGCAAATGGGTGTCTGGTTC TATCAGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTC AGAACGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAG CCCCCATGAGACAGGCCAGGCATGGCCTTGTTATTGCCTGTGGTCGGGGC TTGAAGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCT GACTCAGGAACACCTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAAC CGGGTTACCCTGGGCAGACACAATTTGATCACCTCAGAGCTGGCAATAGT GGAAGGATCTGCCTCGACCCCTTACACGGTGCATCTCTGTGGGGATGTGC ATGGCAATGTCCCTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCA GACTCGCTCATTTCTTTCCCTCCTCGTTCCAGTTTTGCCGACTTCTGTGT AATGTTCCTGATCTGACCTTCTCTTCTCTTTCTCACAGTTTCCCAGTCCC GGCCGACACCCAGTCCAGGTAGGTCCCCAGTGTCCTTCCTCAAAATGTCC CTTCTCTTTCTGCCCAATCACCCCTTCCACACTCCACAGAGCTCTCCTGT TTCTCTGTGTGGATACTGTGGGGCATATTATTTCCACCCCCAACACCGGC TGTGTAACTGAGACCCCAGCACAGCGCTTTTTAAACACACACAGGATTGA GGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCATGAAACAGTTT CATACTGTCCCAGTGGACAACCCTTACAGGTTCAGGAAGTGGCCCCATGT TTAATGAGCTTTGGTCCTTTTATATTCCGGACTCACATATAGTTTCTGAA AATTGAGGGTGTCACCCTCTGACCCGTTCAAGGCATCGTCAGGGCAGGCT CGATACCCCCATCCATCACTGCTGGAAACATTCCGAGATTATGATTCCGA GATTTCTATCCAGAAGAGGCAGAGTTTGTGCTCGGGCAGGGAGAGGGATA ATAAAGGTTTGTGATGTCTCTGCTTAACCAGAAACCTGATTCCTGATTGT CCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTACCTGGCAGTGTCCGAG CCTCAGCAATGGCGTCTGATGTCCTAGTCAGTCCATGCATCAGCAGATGT GGGATGGCATGGTGGGGGCATCCTCTAACAGATAGAAAGATACCCCAGGA TTAG	C C	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(36): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG01243.hp1 HG01517.hp2 HG01981.hp2 HG02040.hp2 HG02080.hp2 HG02698.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03654.hp1 NA18747.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18966.hp1 NA18974.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18989.hp1 NA19007.hp2 NA19009.hp2 NA19065.hp1 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2	a0002 a0003 a0007 others(4): Show a0002 a0003 a0007 a0014 a0017 a0025 a0029	a0002c0007 a0002c0008 a0003c0003 others(7): Show a0002c0007 a0002c0008 a0003c0003 a0003c0054 a0007c0010 a0007c0021 a0014c0020 a0017c0016 a0025c0042 a0029c0043	a0002c0007t0003 a0002c0007t0004 a0002c0008t0002 others(9): Show a0002c0007t0003 a0002c0007t0004 a0002c0008t0002 a0003c0003t0001 a0003c0054t0002 a0007c0010t0002 a0007c0021t0001 a0014c0020t0004 a0017c0016t0003 a0017c0016t0005 a0025c0042t0002 a0029c0043t0001	a0002c0007t0003g0234 a0002c0007t0004g0233 a0002c0008t0002g0008 others(30): Show a0002c0007t0003g0234 a0002c0007t0004g0233 a0002c0008t0002g0008 a0002c0008t0002g0142 a0002c0008t0002g0143 a0002c0008t0002g0235 a0002c0008t0002g0236 a0002c0008t0002g0237 a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0103 a0003c0003t0001g0110 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0239 a0003c0054t0002g0094 a0007c0010t0002g0012 a0007c0010t0002g0080 a0007c0010t0002g0082 a0007c0021t0001g0083 a0014c0020t0004g0095 a0014c0020t0004g0096 a0014c0020t0004g0097 a0017c0016t0003g0116 a0017c0016t0005g0018 a0025c0042t0002g0207 a0029c0043t0001g0211	39	217	0.1797	-12703	c.142 others(17): Show c.1420+237_2917+236del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	15/56				INFO_REALIGN_3_PRIME	chr10	TogoVar
DMBT1_chr10_122555754_122648736	122601633	CTTAACCT others(12170): Show CTTAACCTCTGGGTGCAGCTATCTTCCATCATGACTGCATGCCCTGGTGA CTTCTGCATTCGTATTGAAACTTGACTACTTTGCCCACTGCCCTGATTGT TGTCCATGCCTTATCCTTGACCTCATATTTGAGATGGATGAAGCGTTCTT GTGTTCCCCTGTAGGATCTGAATCCAGTTTGGCCCTGAGGCTGGTGAATG GAGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGAGGCTCCTGG GGCACCGTGTGTGATGACTACTGGGACACCAATGATGCCAATGTGGTTTG CAGGCAGCTGGGCTGTGGCTGGGCCATGTCAGCCCCAGGAAATGCCCGGT TTGGCCAGGGTTCAGGACCCATTGTCCTGGATGATGTGCGCTGCTCAGGA CATGAGTCCTATCTGTGGAGCTGCCCCCACAATGGCTGGCTCTCCCACAA CTGTGGCCATCATGAAGACGCTGGTGTCATCTGCTCAGGTGGGCCTCCAA GACCTTCGGCTCCCTCTCCTAGGTTGGAGTTTGCTCAGGAAGAAAATCCT AATTACATTATGATCTCCTCTGAACTCACAGATTCTTCTATGTTTCTTGT ATTTATGCAGCCTTGTTAGCTCCCTGCTAAGAATCTGTATGAATTTTGCT ACAGCGGTTGGTGTTCATGTGGTCACTTAGGACAGGGGACCAAAGTCAAA CAACAACCCAGACTTTATCCCCTTCCTGAGGCAGTGCAAGGAAGAGGCAG AAGAGAAAACTGCTGGCTCCCCAGGGCTCCATTTCTTCCCTGCTGAGTAG CAGTGGTTGAGGGTATCATGGACATAGGACAGACAGCGGGGCAGAGGAGG GATCCTCTCACTGTGAGGAACTCTGAACCAAAGATGCTTGTCTGGAAGTG GGTTCTCAGCTGAGACCCAGTGAGGAGGTCTGGAAACAGAGGCTCAAGGG TTAGGAGTGCAAAATGGGTGTCTGGTTCTATCAGGCCTGGGTTGTGTGAG GTTGGAGTCCTTGACCTCAGGTCCTCTCAGAACGCTGCAGAGCACTGCCT TGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCCCATGAGACTGGCCAGGCT TGGCCTCATTATTGCCTGTGGTCGGGGCTTGAAGATCACACAAGGGATTT TGGCTGGAGTGGCTTCCTCAGCCTTGCTGACTCAGGAACACTTAAGATGT GCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGCGCAGACACA ATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGCCTCAACCCC TTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCCCTCCCTGTG TGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATTTCTTTCCCT CCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGATCTGACCTTC TCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCAGCCCAGGTA AGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTGCCCAATCAC CCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGGATACTGTGG GGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACATGGGTCCTTT TCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGGAAGGCATAC AAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACATCACATGTCA GCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGTTTTTATTGG TGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGGTCACAGAGA TCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATGGAGGCAGGG CAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAAGTTTCGGGC ACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTTGAGAGCAGA CAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCATCCTAATAA GCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCTTATCTGTAA GCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGCCTCCCCTTA GGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAAAGGAATTCA GCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTGGCTCTGTTC TGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCTTGTTCCCTG AACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGATTTCATATTG TTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCCTGAGGTGAC ATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTAAAGTAAAGA CAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGATAAGTGTCCA TGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGACAGGCGTAAG AAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCATGAAATCTT CAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCTGTTTGGGGT CCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACACATAGGATT CAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCATGAAACAGT TTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAGTGGCCCCAT GTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATATAGTTTCGA AAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTCAGGGCAGGC TCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATTATGATGGAC CACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAGGGAAAGGGA TAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGATTCCTGATT GTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGCCAGTGTCTG AGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCATCAGCAGAT GTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAAGATACCCCA GGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGACCTTTGTTC ATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATGGGAAGCAAG TGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCCCCTCCCAGA GAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCTGTCTTTTCC TTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCATCAACAGCAG GTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCTGGACATATT TTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCCTCTTTTTTC ACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGAGGAGCCAGT GCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGTCTCCCATGG AATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTGCTCAGGATG AGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCTGGCCCTCAG GCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCAGTCTCTGCA CTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAGAAGGCAGAG AGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGGGTCTGGGCT TGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAGAGTGGGGAA TGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATGCTTACCCAT AGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACTTTTTCCACT ATGACAAAGTTTAACCTCTGGGTGCAGCTATCTTCCATCATGACTGCATG CCCTGGTGACTTCTGCATTCGTATTGAAACTTGACTACTTTGCCCACTGC CCTGATTGTTGTCCATGCCTTATCCTTGACCTCATATTTGAGATGGATGA AGCGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTTTGGCCCTGAGGC TGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGA GGCTCCTGGGGCACCGTGTGTGATGACTACTGGGACACCAATGATGCCAA TGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGGCCACGTCAGCCCCAGGAA ATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGATGATGTGCGC TGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCCCCACAATGGCTGGCT CTCCCACAACTGTGGCCATCATGAAGACGCTGGTGTCATCTGCTCAGGTG GGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTGGAGTTTGCTCAGGAA GAAAATCCTAATTACATTATGATCTCCTCTGAACTCACAGATTCTTCTAT GTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTGCTAAGAATCTGTATG AATTTTGCTACAGCGGTTGGTGTTCATGTGGTCACTTAGGACAGGGGACC AAAGTCAAACAACAACCCAGACTTTATCCCCTTCCTGAGGCAGTGCAAGG AAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGGCTCCATTTCTTCCCT GCTGAGTAGCAGTGGTTGAGGGTATCATGGACATAGGACAGACAGCGGGG CAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGAACCAAAGATGCTTGT CTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGAGGTCTGGAAACAGAG GCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGTTCTATCAGGCCTGGG TTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAACGCTGCAGA GCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCCCATGAGACT GGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGGGCTTGAAGATCACAC AAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACTCAGGAACAC CTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGC GCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGC CTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCC CTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGACTCGCCCATT TCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGAT CTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCA GCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTG CCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGG ATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGTATTTCACAT GGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGG AAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACAT CACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGT TTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGG TCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACAAGGTAAATG GAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATTGCTAATGAA GTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAGACAGGGTTT GAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCA TCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCT TATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGC CTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAA AGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTG GCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCT TGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGAT TTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATCACAGGGTCC TGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTA AAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGGGGAAGTGAT AAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGCAGTAAAGAC AGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAATAAATGTCCA TGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCT GTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTTGAAAACACA CATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCA TGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAG TGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGGACTCACATA TAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTC AGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAATTCTGAGATT ATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAG GGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGA TTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGC CAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCA TCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAACAGATAGAAA GATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCTCCAGCAGGA CCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGAAGACACATG GGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGGTGGATTCCC CCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAGTCTAATTCT GTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCTCACATGCAT CAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTCACTGTCTCT GGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAGGTGGGCCCC TCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGGAATCTCTGA GGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCTGGTGACTGT CTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTCATCCAGGTG CTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGACCTCGTTCCT GGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTGAAAGTGCCA GTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCAAATTGCCAG AAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAATTCGGAGGGG GTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTGTGTACCCAG AGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGGTCATACATG CTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAGGGCATCACT TTTTCCACTATGACAAAGTTTAACCTCTGGGTGCAGCTATCTTCCATCAT GACTGCATGCCCTGGTGACTTCTGCATTCGTATTGAAACTTGACTACTTT GCCCACTGCCCTGATTGTTGTCCATGCCTTATCCTTGACCTCATATTTGA GATGGATGAAGCGTTCTTGTGTTCCCCTGTAGGATCTGAATCCAGTTTGG CCCTGAGGCTGGTGAATGGAGGTGACAGGTGTCAGGGCCGAGTGGAGGTC CTATACCGAGGCTCCTGGGGCACCGTGTGTGATGACTACTGGGACACCAA TGATGCCAATGTGGTTTGCAGGCAGCTGGGCTGTGGCTGGGCCACGTCAG CCCCAGGAAATGCCCGGTTTGGCCAGGGTTCAGGACCCATTGTCCTGGAT GATGTGCGCTGCTCAGGACATGAGTCCTATCTGTGGAGCTGCCCCCACAA TGGCTGGCTCTCCCACAACTGTGGCCATCATGAAGACGCTGGTGTCATCT GCTCAGGTGGGCCTCCAAGACCTTCGGCTCCCTCTCCTAGGTTGGAGTTT GCTCAGGAAGAAAATCCTAATTACATTATGATCTCCTCTGAACTCACAGA TTCTTCTATGTTTCTTGTATTTATGCAGCCTTGTTAGCTCCCTGCTAAGA ATCTGTATGAATTTTGCTACAGCGGTTGGTGTTCATGTGGTCACTTAGGA CAGGGGACCAAAGTCAAACAACAACCCAGACTTTATCCCCTTCCTGAGGC AGTGCAAGGAAGAGGCAGAAGAGAAAACTGCTGGCTCCCCAGGGCTCCAT TTCTTCCCTGCTGAGTAGCAGTGGTTGAGGGTATCATGGACATAGGACAG ACAGCGGGGCAGAGGAGGGATCCTCTCACTGTGAGGAACTCTGAACCAAA GATGCTTGTCTGGAAGTGGGTTCTCAGCTGAGACCCAGTGAGGAGGTCTG GAAACAGAGGCTCAAGGGTTAGGAGTGCAAAATGGGTGTCTGGTTCTATC AGGCCTGGGTTGTGTGAGGTTGGAGTCCTTGACCTCAGGTCCTCTCAGAA CGCTGCAGAGCACTGCCTTGCCCTGGGTCTGGTGTGGGGAGGGCAGCCCC CATGAGACTGGCCAGGCTTGGCCTCATTATTGCCTGTGGTCGGGGCTTGA AGATCACACAAGGGATTTTGGCTGGAGTGGCTTCCTCAGCCTTGCTGACT CAGGAACACCTAAGATGTGCAAGGGAGTGGGTTGGTTTAGGTCAACTGGG TTACCCTGCGCAGACACAATTTGATCTCCTCAGAGCTGGCAATAGTGGAC AGGATCTGCCTCAACCCCTTACACGGTGCATCTCTGTGGGGATGTGCATG GCAATGTCCCTCCCTGTGTGATAGGAACTAGGATGGACTGAGTGTCAGAC TCGCCCATTTCTTTCCCTCCTCATTCCAGTTTTGTCGACTTCTGTGTAAC ATTCCTGATCTGACCTTCTCTTCTCTTTCTCACAGCTTCCCAGTCCCAGC CGACACCCAGCCCAGGTAAGTTCCCAGTGTCCTTCCTCAAAATGTCCCTT CTCTTTCTGCCCAATCACCCCTTCCCCACTCCACAGAGCTCTCCTGTTTC TCTGTGTGGATACTGTGGGGCATATTATTTCTACCGCCACCACCGGCTGT ATTTCACATGGGTCCTTTTCTATTTTCCCTAAGTGTCAGCCGGTCTGAGA AATAAAGGGAAGGCATACAAAAGAGCAAAATTTTAAAGCTGGGTGTTGGG GGGAGACATCACATGTCAGCAGGTTCCGTGATCCCTCCTGAGTAGCAAAA CCAGCAAGTTTTTATTGGTGATTTTCAAAAGGGGAGGGAGTGCACAAATA GGGTGTGGGTCACAGAGATCACATCCTTCACAAGGTAATAAAATATCACA AGGTAAATGGAGGCAGGGCAAGATCACAGGACTGGGGTGAAATTAAAATT GCTAATGAAGTTTCGGGCACGCATTGTCATTGAAAACATTTTATCAGGAG ACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGAGGCA ATTTCCTCATCCTAATAAGCCTGGAAGCGCTACGGGGGACCGGGGCTTAT TTCATCCCTTATCTGTAAGCGTAAAAGACAGACGTTCCCAAAGCGGCCAT TTCAGAGGCCTCCCCTTAGGAACACATTCTCTTTCTCAGGGATGTTCCTT GCTGAGAAAAGGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAGGAAG AGAAATGTGGCTCTGTTCTGCCTGGCCCACAGGCAGCCAGCCTTTAAGGT TATCTCCCTTGTTCCCTGAACAACGCTGTTATCCTGTTCTTTTTTCACAG TGCCCAGATTTCATATTGTTTAAACAATTTCTGCAGTTAACGCAATCATC ACAGGGTCCTGAGGTGACATTCATCCTCAGTTTATGAAGAAGATGGGATT AAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAGAGTATTGATTGG GGAAGTGATAAGTGTCCATGAAATCTTCACAATTTATGTTCAGAGATTGC AGTAAAGACAGGCGTAAGAAATTATAAAAATATTAATTTGGGGAACTAAT AAATGTCCATGAAATCTTCAAATTTATGTTCTTGTGCCATGGCCTCAGCC GGTCCCTCTGTTTGGGGTCCCTGACTTCCCGCAACACAGCACAGTGCTTT GAAAACACACATAGGATTCAGGAGGCCTCTGTCTTCTTTTCAACCCCTCT CAGCTTTCATGAAACAGTTTCATACTGTCCCAGTGGACAGCCCTTACAGG TTCAGGAAGTGGCCCCATGTTTAATGAGTTTTGGTCCTTTTATATTCAGG ACTCACATATAGTTTCGAAAATTGAGGGTGTCACCCTCTGACCTGTTCAA GGCATTGTCAGGGCAGGCTCGATACCCCCATCCATCACTGCTGGAAAAAT TCTGAGATTATGATGGACCACATTTGTATCCAGAAGAGGCAGGGTTTGTG CTTGGGCAGGGAAAGGGATAATAAAGGTTTGTAGTGTCTCTGCTTAGCCA GAAACCTGATTCCTGATTGTCCCCTGGGCAGCCCCTGGTTCCCCTAACAT TTTATCTGCCAGTGTCTGAGCCTCAGCAATGGCATCTGATGTCCTAGTCA GTCCATGCATCAGCAGATGTGGGATTGCATGGTGGGGGGCATCCTCTAAC AGATAGAAAGATACCCCAGGATTAGAGAAATGGAGGGCTCAGTCTGGTCT CCAGCAGGACCTTTGTTCATGGATGAGTTCACAGCAGAGGAGACCTGGGA AGACACATGGGAAGCAAGTGGCAGGAACAGGAAGTGGAATTGTTGCCAGG TGGATTCCCCCTCCCAGAGAACCTTTTGTTCTGCACCTTTTCCCTTCAAG TCTAATTCTGTCTTTTCCTTTGTTGCAATTTACAGACACTTGGCCAACCT CACATGCATCAACAGCAGGTAAATAATCCTCTCACCCCTCCCTAGGGCTC ACTGTCTCTGGACATATTTTGTGTTTGAAACTGATAGGATGAGGCTCAAG GTGGGCCCCTCTTTTTTCACTCCCCTGTGGGTTGCGTGGGAGGAAGGTGG AATCTCTGAGGAGCCAGTGCTGGGTCTGATGTTTGAGGATGGAGGGTGCT GGTGACTGTCTCCCATGGAATCCTGTTCCAAGTGGTCAGGAAAGATCCTC ATCCAGGTGCTCAGGATGAGCACTGGAGGGCTCCTTAATCCTACTGGGAC CTCGTTCCTGGCCCTCAGGCCATGGGATCCAGATCTCTGAAGAGCAGGTG AAAGTGCCAGTCTCTGCACTTGTGTGGCCAAGGTCTTGCCATCACTGGCA AATTGCCAGAAGGCAGAGAGGACCATGCAGGTGCCAATGAGCTCCTGAAT TCGGAGGGGGTCTGGGCTTGTCATTTGTAGCTGTGTATCTCCATCCTTTG TGTACCCAGAGTGGGGAATGGGGTGTCCATTCCTGTCCCCTCCTCTGGGG TCATACATGCTTACCCATAGCTTGAGCTTTTATAGACTTGAGTAGAATAG GGCATCACTTTTTCCACTATGACAAAGT	C C	exon_loss_variant exon_loss_variant	HIGH	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01433.hp1 HG01928.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18946.hp1 NA18948.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA19007.hp2 NA19030.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0002 a0003 a0006 others(21): Show a0002 a0003 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0015 a0017 a0019 a0026 a0029 a0030 a0031 a0033 a0034 a0036 a0038 a0040 a0043 a0048 a0050	a0002c0007 a0003c0003 a0003c0054 others(26): Show a0002c0007 a0003c0003 a0003c0054 a0006c0004 a0007c0062 a0008c0009 a0008c0063 a0009c0013 a0009c0018 a0010c0011 a0011c0012 a0011c0032 a0014c0020 a0015c0017 a0017c0016 a0019c0058 a0019c0064 a0026c0051 a0029c0043 a0030c0059 a0031c0029 a0033c0035 a0034c0031 a0036c0070 a0038c0071 a0040c0030 a0043c0065 a0048c0073 a0050c0041	a0002c0007t0001 a0002c0007t0004 a0003c0003t0001 others(32): Show a0002c0007t0001 a0002c0007t0004 a0003c0003t0001 a0003c0054t0002 a0006c0004t0001 a0006c0004t0003 a0006c0004t0004 a0007c0062t0001 a0008c0009t0002 a0008c0063t0001 a0009c0013t0001 a0009c0013t0003 a0009c0018t0002 a0010c0011t0001 a0010c0011t0009 a0011c0012t0001 a0011c0032t0002 a0014c0020t0004 a0015c0017t0002 a0017c0016t0003 a0017c0016t0005 a0019c0058t0002 a0019c0064t0003 a0026c0051t0001 a0029c0043t0001 a0030c0059t0001 a0031c0029t0001 a0033c0035t0001 a0034c0031t0001 a0036c0070t0003 a0038c0071t0001 a0040c0030t0001 a0043c0065t0002 a0048c0073t0001 a0050c0041t0007	a0002c0007t0001g0149 a0002c0007t0001g0166 a0002c0007t0001g0222 others(86): Show a0002c0007t0001g0149 a0002c0007t0001g0166 a0002c0007t0001g0222 a0002c0007t0001g0223 a0002c0007t0001g0225 a0002c0007t0001g0226 a0002c0007t0001g0228 a0002c0007t0001g0230 a0002c0007t0004g0224 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0103 a0003c0003t0001g0110 a0003c0003t0001g0115 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0160 a0003c0003t0001g0192 a0003c0003t0001g0239 a0003c0054t0002g0094 a0006c0004t0001g0118 a0006c0004t0001g0130 a0006c0004t0001g0140 a0006c0004t0003g0005 a0006c0004t0003g0017 a0006c0004t0003g0020 a0006c0004t0003g0128 a0006c0004t0003g0131 a0006c0004t0003g0134 a0006c0004t0003g0135 a0006c0004t0003g0136 a0006c0004t0003g0141 a0006c0004t0003g0144 a0006c0004t0004g0209 a0007c0062t0001g0066 a0008c0009t0002g0010 a0008c0009t0002g0061 a0008c0009t0002g0064 a0008c0009t0002g0068 a0008c0009t0002g0069 a0008c0009t0002g0070 a0008c0009t0002g0071 a0008c0009t0002g0138 a0008c0063t0001g0065 a0009c0013t0001g0021 a0009c0013t0001g0156 a0009c0013t0003g0196 a0009c0018t0002g0194 a0009c0018t0002g0195 a0009c0018t0002g0216 a0010c0011t0001g0042 a0010c0011t0001g0044 a0010c0011t0001g0045 a0010c0011t0001g0047 a0010c0011t0009g0043 a0011c0012t0001g0088 a0011c0012t0001g0090 a0011c0012t0001g0107 a0011c0012t0001g0108 a0011c0032t0002g0089 a0014c0020t0004g0095 a0014c0020t0004g0096 a0014c0020t0004g0097 a0015c0017t0002g0054 a0015c0017t0002g0055 a0015c0017t0002g0056 a0017c0016t0003g0116 a0017c0016t0005g0018 a0019c0058t0002g0040 a0019c0064t0003g0038 a0026c0051t0001g0112 a0029c0043t0001g0211 a0030c0059t0001g0051 a0031c0029t0001g0109 a0033c0035t0001g0197 a0034c0031t0001g0105 a0036c0070t0003g0046 a0038c0071t0001g0041 a0040c0030t0001g0091 a0043c0065t0002g0024 a0048c0073t0001g0025 a0050c0041t0007g0227	99	269	0.3680	-12177	c.350 others(9): Show c.3506_4666del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	30/56	3523/7984			INFO_REALIGN_3_PRIME	chr10	TogoVar
DMBT1_chr10_122555754_122648736	122604797	TGGGGGGC others(4053): Show TGGGGGGCATCCTCTAACAGATAGAAAGATACCCCAGGATTAGAGAAATG GAGGGCTCAGTCTGGTCTCCAGCAGGACCTTTGTTCATGGATGAGTTCAC AGCAGAGGAGACCTGGGAAGACACATGGGAAGCAAGTGGCAGGAACAGGA AGTGGAATTGTTGCCAGGTGGATTCCCCCTCCCAGAGAACCTTTTGTTCT GCACCTTTTCCCTTCAAGTCTAATTCTGTCTTTTCCTTTGTTGCAATTTA CAGACACTTGGCCAACCTCACATGCATCAACAGCAGGTAAATAATCCTCT CACCCCTCCCTAGGGCTCACTGTCTCTGGACATATTTTGTGTTTGAAACT GATAGGATGAGGCTCAAGGTGGGCCCCTCTTTTTTCACTCCCCTGTGGGT TGCGTGGGAGGAAGGTGGAATCTCTGAGGAGCCAGTGCTGGGTCTGATGT TTGAGGATGGAGGGTGCTGGTGACTGTCTCCCATGGAATCCTGTTCCAAG TGGTCAGGAAAGATCCTCATCCAGGTGCTCAGGATGAGCACTGGAGGGCT CCTTAATCCTACTGGGACCTCGTTCCTGGCCCTCAGGCCATGGGATCCAG ATCTCTGAAGAGCAGGTGAAAGTGCCAGTCTCTGCACTTGTGTGGCCAAG GTCTTGCCATCACTGGCAAATTGCCAGAAGGCAGAGAGGACCATGCAGGT GCCAATGAGCTCCTGAATTCGGAGGGGGTCTGGGCTTGTCATTTGTAGCT GTGTATCTCCATCCTTTGTGTACCCAGAGTGGGGAATGGGGTGTCCATTC CTGTCCCCTCCTCTGGGGTCATACATGCTTACCCATAGCTTGAGCTTTTA TAGACTTGAGTAGAATAGGGCATCACTTTTTCCACTATGACAAAGTTTAA CCTCTGGGTGCAGCTATCTTCCATCATGACTGCATGCCCTGGTGACTTCT GCATTCGTATTGAAACTTGACTACTTTGCCCACTGCCCTGATTGTTGTCC ATGCCTTATCCTTGACCTCATATTTGAGATGGATGAAGCGTTCTTGTGTT CCCCTGTAGGATCTGAATCCAGTTTGGCCCTGAGGCTGGTGAATGGAGGT GACAGGTGTCAGGGCCGAGTGGAGGTCCTATACCGAGGCTCCTGGGGCAC CGTGTGTGATGACTACTGGGACACCAATGATGCCAATGTGGTTTGCAGGC AGCTGGGCTGTGGCTGGGCCACGTCAGCCCCAGGAAATGCCCGGTTTGGC CAGGGTTCAGGACCCATTGTCCTGGATGATGTGCGCTGCTCAGGACATGA GTCCTATCTGTGGAGCTGCCCCCACAATGGCTGGCTCTCCCACAACTGTG GCCATCATGAAGACGCTGGTGTCATCTGCTCAGGTGGGCCTCCAAGACCT TCGGCTCCCTCTCCTAGGTTGGAGTTTGCTCAGGAAGAAAATCCTAATTA CATTATGATCTCCTCTGAACTCACAGATTCTTCTATGTTTCTTGTATTTA TGCAGCCTTGTTAGCTCCCTGCTAAGAATCTGTATGAATTTTGCTACAGC GGTTGGTGTTCATGTGGTCACTTAGGACAGGGGACCAAAGTCAAACAACA ACCCAGACTTTATCCCCTTCCTGAGGCAGTGCAAGGAAGAGGCAGAAGAG AAAACTGCTGGCTCCCCAGGGCTCCATTTCTTCCCTGCTGAGTAGCAGTG GTTGAGGGTATCATGGACATAGGACAGACAGCGGGGCAGAGGAGGGATCC TCTCACTGTGAGGAACTCTGAACCAAAGATGCTTGTCTGGAAGTGGGTTC TCAGCTGAGACCCAGTGAGGAGGTCTGGAAACAGAGGCTCAAGGGTTAGG AGTGCAAAATGGGTGTCTGGTTCTATCAGGCCTGGGTTGTGTGAGGTTGG AGTCCTTGACCTCAGGTCCTCTCAGAACGCTGCAGAGCACTGCCTTGCCC TGGGTCTGGTGTGGGGAGGGCAGCCCCCATGAGACTGGCCAGGCTTGGCC TCATTATTGCCTGTGGTCGGGGCTTGAAGATCACACAAGGGATTTTGGCT GGAGTGGCTTCCTCAGCCTTGCTGACTCAGGAACACCTAAGATGTGCAAG GGAGTGGGTTGGTTTAGGTCAACTGGGTTACCCTGCGCAGACACAATTTG ATCTCCTCAGAGCTGGCAATAGTGGACAGGATCTGCCTCAACCCCTTACA CGGTGCATCTCTGTGGGGATGTGCATGGCAATGTCCCTCCCTGTGTGATA GGAACTAGGATGGACTGAGTGTCAGACTCGCCCATTTCTTTCCCTCCTCA TTCCAGTTTTGTCGACTTCTGTGTAACATTCCTGATCTGACCTTCTCTTC TCTTTCTCACAGCTTCCCAGTCCCAGCCGACACCCAGCCCAGGTAAGTTC CCAGTGTCCTTCCTCAAAATGTCCCTTCTCTTTCTGCCCAATCACCCCTT CCCCACTCCACAGAGCTCTCCTGTTTCTCTGTGTGGATACTGTGGGGCAT ATTATTTCTACCGCCACCACCGGCTGTATTTCACATGGGTCCTTTTCTAT TTTCCCTAAGTGTCAGCCGGTCTGAGAAATAAAGGGAAGGCATACAAAAG AGCAAAATTTTAAAGCTGGGTGTTGGGGGGAGACATCACATGTCAGCAGG TTCCGTGATCCCTCCTGAGTAGCAAAACCAGCAAGTTTTTATTGGTGATT TTCAAAAGGGGAGGGAGTGCACAAATAGGGTGTGGGTCACAGAGATCACA TCCTTCACAAGGTAATAAAATATCACAAGGTAAATGGAGGCAGGGCAAGA TCACAGGACTGGGGTGAAATTAAAATTGCTAATGAAGTTTCGGGCACGCA TTGTCATTGAAAACATTTTATCAGGAGACAGGGTTTGAGAGCAGACAACT GGTCTGACCAAAATTTATTAGGAGGCAATTTCCTCATCCTAATAAGCCTG GAAGCGCTACGGGGGACCGGGGCTTATTTCATCCCTTATCTGTAAGCGTA AAAGACAGACGTTCCCAAAGCGGCCATTTCAGAGGCCTCCCCTTAGGAAC ACATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAAAGGAATTCAGCGAT ATTTCTCCTATTTGCTTTTGAAGGAAGAGAAATGTGGCTCTGTTCTGCCT GGCCCACAGGCAGCCAGCCTTTAAGGTTATCTCCCTTGTTCCCTGAACAA CGCTGTTATCCTGTTCTTTTTTCACAGTGCCCAGATTTCATATTGTTTAA ACAATTTCTGCAGTTAACGCAATCATCACAGGGTCCTGAGGTGACATTCA TCCTCAGTTTATGAAGAAGATGGGATTAAGAGATTAAAGTAAAGACAGGC ATAGGAAATCACAAGAGTATTGATTGGGGAAGTGATAAGTGTCCATGAAA TCTTCACAATTTATGTTCAGAGATTGCAGTAAAGACAGGCGTAAGAAATT ATAAAAATATTAATTTGGGGAACTAATAAATGTCCATGAAATCTTCAAAT TTATGTTCTTGTGCCATGGCCTCAGCCGGTCCCTCTGTTTGGGGTCCCTG ACTTCCCGCAACACAGCACAGTGCTTTGAAAACACACATAGGATTCAGGA GGCCTCTGTCTTCTTTTCAACCCCTCTCAGCTTTCATGAAACAGTTTCAT ACTGTCCCAGTGGACAGCCCTTACAGGTTCAGGAAGTGGCCCCATGTTTA ATGAGTTTTGGTCCTTTTATATTCAGGACTCACATATAGTTTCGAAAATT GAGGGTGTCACCCTCTGACCTGTTCAAGGCATTGTCAGGGCAGGCTCGAT ACCCCCATCCATCACTGCTGGAAAAATTCTGAGATTATGATGGACCACAT TTGTATCCAGAAGAGGCAGGGTTTGTGCTTGGGCAGGGAAAGGGATAATA AAGGTTTGTAGTGTCTCTGCTTAGCCAGAAACCTGATTCCTGATTGTCCC CTGGGCAGCCCCTGGTTCCCCTAACATTTTATCTGCCAGTGTCTGAGCCT CAGCAATGGCATCTGATGTCCTAGTCAGTCCATGCATCAGCAGATGTGGG ATTGCATGGTG	T T	exon_loss_variant exon_loss_variant	HIGH	NA18966.hp2 NA19066.hp2 NA18966.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0127 a0001c0002t0004g0200 a0001c0002t0004g0127 a0001c0002t0004g0200	2	279	0.0072	-4060	c.369 others(17): Show c.3698-247_4085-247del		DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding	31/56				INFO_REALIGN_3_PRIME	chr10	TogoVar
DUSP13_chr10_75089436_75104512	75099203	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(160): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19089.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0001c0007t0001 a0001c0012t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0004g0052 a0001c0006t0001g0014 a0001c0006t0001g0053 a0001c0007t0001g0017 a0001c0012t0001g0050 a0001c0013t0001g0058	163	402	0.4055	-1	c.234 others(4): Show c.234delA	p.Ala others(4): Show p.Ala80fs	DUSP13	ENSG00000079393.22	transcript	ENST00000478873.7	protein_coding	1/4	309/1320	234/1005	78/334		chr10	TogoVar
DYNLT5_chr1_66747459_66784047	66776404	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00323.hp2 HG00544.hp1 others(52): Show HG00099.hp2 HG00323.hp2 HG00544.hp1 HG00609.hp1 HG01070.hp2 HG01168.hp1 HG01517.hp1 HG02055.hp1 HG02080.hp2 HG02083.hp2 HG02165.hp2 HG02280.hp1 HG02523.hp2 HG02818.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG03942.hp2 NA18948.hp1 NA18950.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18999.hp2 NA19012.hp1 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0010 a0003c0003t0021 a0003c0003t0002 a0003c0003t0010 a0003c0003t0021	a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0012 others(29): Show a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0012 a0003c0003t0002g0023 a0003c0003t0002g0026 a0003c0003t0002g0037 a0003c0003t0002g0040 a0003c0003t0002g0043 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0089 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0100 a0003c0003t0002g0101 a0003c0003t0002g0108 a0003c0003t0002g0112 a0003c0003t0002g0123 a0003c0003t0002g0131 a0003c0003t0002g0160 a0003c0003t0002g0163 a0003c0003t0010g0008 a0003c0003t0010g0096 a0003c0003t0021g0095	55	400	0.1375	0	c.336 others(5): Show c.336+1G>A		DYNLT5	ENSG00000152760.10	transcript	ENST00000282670.7	protein_coding	4/4					chr1	TogoVar
EBLN2_chr3_73056659_73068337	73062330	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show HG00099.hp1 HG00423.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0007 a0002c0009 others(1): Show a0002c0002 a0002c0007 a0002c0009 a0005c0006	a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 others(8): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0022 a0002c0002t0023 a0002c0007t0002 a0002c0009t0003 a0005c0006t0002	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 others(8): Show a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0002t0014g0000 a0002c0002t0022g0000 a0002c0002t0023g0000 a0002c0007t0002g0000 a0002c0009t0003g0000 a0005c0006t0002g0000	114	426	0.2676	1	c.250 others(4): Show c.250dupA	p.Arg others(4): Show p.Arg84fs	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding	1/1	674/1679	251/819	84/272	INFO_REALIGN_3_PRIME	chr3	TogoVar
EFCAB2_chr1_244964682_245092837	244970321	T T	TCCTCC TCCTCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02647.hp2 HG02818.hp1 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03471.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG04115.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19062.hp2 NA19065.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(111): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0011g0278 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0004g0033 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0054 a0001c0002t0004g0063 a0001c0002t0004g0065 a0001c0002t0004g0072 a0001c0002t0004g0112	114	288	0.3958	5	c.-90 others(16): Show c.-90-7_-90-3dupCCTCC		EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	1/7				INFO_REALIGN_3_PRIME	chr1	TogoVar
EIF3CL_chr16_28374715_28408841	28388130	C C	T T	stop_gained stop_gained	HIGH	HG00544.hp1 HG01106.hp1 HG01243.hp1 others(24): Show HG00544.hp1 HG01106.hp1 HG01243.hp1 HG01496.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02895.hp2 HG04199.hp1 NA18522.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA19000.hp1 NA19009.hp2 NA19062.hp1 NA19064.hp2 NA19087.hp2 NA19091.hp1 NA20129.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0006 a0008	a0002c0002 a0002c0007 a0002c0013 others(5): Show a0002c0002 a0002c0007 a0002c0013 a0002c0018 a0003c0003 a0005c0009 a0006c0008 a0008c0017	a0002c0002t0001 a0002c0007t0001 a0002c0013t0001 others(5): Show a0002c0002t0001 a0002c0007t0001 a0002c0013t0001 a0002c0018t0001 a0003c0003t0002 a0005c0009t0002 a0006c0008t0001 a0008c0017t0001	a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 others(24): Show a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0095 a0002c0002t0001g0098 a0002c0002t0001g0131 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0007t0001g0114 a0002c0007t0001g0115 a0002c0007t0001g0116 a0002c0013t0001g0150 a0002c0018t0001g0028 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0016 a0005c0009t0002g0015 a0006c0008t0001g0021 a0008c0017t0001g0113	27	172	0.1570	0	c.174 others(4): Show c.1749G>A	p.Trp others(4): Show p.Trp583*	EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding	15/21	1834/2913	1749/2745	583/914		chr16	TogoVar
EMILIN2_chr18_2842006_2921003	2906766	TCCCCGAC others(21): Show TCCCCGACGCCCGGCAGAGGCGCCCTCGC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01123.hp1 HG03669.hp1 NA18945.hp2 others(4): Show HG01123.hp1 HG03669.hp1 NA18945.hp2 NA18950.hp2 NA18966.hp1 NA19065.hp2 NA19066.hp2	a0004 a0004	a0004c0011 a0004c0039 a0004c0043 a0004c0011 a0004c0039 a0004c0043	a0004c0011t0001 a0004c0011t0003 a0004c0039t0056 others(1): Show a0004c0011t0001 a0004c0011t0003 a0004c0039t0056 a0004c0043t0003	a0004c0011t0001g0184 a0004c0011t0003g0148 a0004c0011t0003g0286 others(4): Show a0004c0011t0001g0184 a0004c0011t0003g0148 a0004c0011t0003g0286 a0004c0011t0003g0329 a0004c0011t0003g0397 a0004c0039t0056g0017 a0004c0043t0003g0164	7	450	0.0156	-28	c.236 others(40): Show c.2360-11_2376delACGCCCGGCAGAGGCGCCCTCGCCCCCG	p.Lys others(5): Show p.Lys787fs	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	5/8		2360/3162	787/1053	INFO_REALIGN_3_PRIME	chr18	TogoVar
ENDOU_chr12_47704734_47730490	47718186	T T	A A	stop_gained stop_gained	HIGH	NA18965.hp2 NA18966.hp2 NA18971.hp1 others(2): Show NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18979.hp2 NA19083.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0026 a0003c0004t0001g0069 a0003c0004t0001g0070 a0003c0004t0001g0026 a0003c0004t0001g0069 a0003c0004t0001g0070	5	420	0.0119	0	c.187 others(3): Show c.187A>T	p.Lys others(3): Show p.Lys63*	ENDOU	ENSG00000111405.9	transcript	ENST00000422538.8	protein_coding	3/10	264/2378	187/1233	63/410		chr12	TogoVar
ENDOV_chr17_80410167_80443086	80422204	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp2 HG00438.hp1 HG00609.hp1 others(32): Show HG00408.hp2 HG00438.hp1 HG00609.hp1 HG01257.hp2 HG01943.hp1 HG01952.hp1 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG03669.hp1 HG03831.hp2 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18982.hp2 NA18986.hp1 NA18990.hp1 NA19005.hp1 NA19058.hp1 NA19078.hp1 NA19083.hp1 NA19086.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016	a0001c0001t0001g0018 a0001c0001t0001g0162 a0001c0001t0001g0251 others(15): Show a0001c0001t0001g0018 a0001c0001t0001g0162 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0002g0015 a0001c0001t0002g0157 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0003g0147 a0001c0001t0004g0002 a0001c0001t0004g0019 a0001c0001t0004g0090 a0001c0001t0004g0163 a0001c0001t0004g0249 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0016g0256	35	418	0.0837	0	c.364 others(5): Show c.364-2A>G		ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	3/9					chr17	TogoVar
ENTPD5_chr14_73958230_74024288	74015931	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	378	0.0026	0	c.-23 others(6): Show c.-237-1G>A		ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	1/15					chr14	TogoVar
ERV3-1_chr7_64985356_65011687	64992360	G G	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00408.hp2 HG00558.hp2 others(60): Show HG00140.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00733.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01928.hp2 HG01981.hp2 HG02056.hp1 HG02080.hp1 HG02293.hp1 HG02523.hp1 HG02717.hp2 HG02735.hp1 HG03239.hp1 HG03654.hp2 HG03669.hp2 HG03942.hp2 NA18747.hp1 NA18939.hp2 NA18944.hp1 NA18946.hp1 NA18951.hp2 NA18952.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18973.hp1 NA18974.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18999.hp2 NA19002.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19055.hp2 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20805.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0019 a0003c0003 a0008c0019	a0003c0003t0001 a0008c0019t0001 a0003c0003t0001 a0008c0019t0001	a0003c0003t0001g0003 a0003c0003t0001g0015 a0003c0003t0001g0021 others(12): Show a0003c0003t0001g0003 a0003c0003t0001g0015 a0003c0003t0001g0021 a0003c0003t0001g0030 a0003c0003t0001g0042 a0003c0003t0001g0044 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0092 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0115 a0003c0003t0001g0116 a0008c0019t0001g0105	63	456	0.1382	0	c.667 others(3): Show c.667C>T	p.Arg others(4): Show p.Arg223*	ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding	2/2	1202/3206	667/1815	223/604		chr7	TogoVar
FAM166C_chr2_26557587_26584524	26579320	G G	A A	stop_gained stop_gained	HIGH	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0003 a0003c0012t0002g0003	1	410	0.0024	0	c.488 others(3): Show c.488G>A	p.Trp others(4): Show p.Trp163*	FAM166C	ENSG00000173557.15	transcript	ENST00000329615.4	protein_coding	4/4	514/718	488/606	163/201		chr2	TogoVar
FAM90A17_chr8_7741034_7754044	7747419	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00558.hp1 others(73): Show HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00558.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02896.hp2 HG03017.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18943.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18991.hp1 NA18998.hp1 NA19043.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0005 others(21): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0015 a0016 a0017 a0018 a0019 a0024 a0028 a0029 a0032 a0033 a0034 a0035 a0040 a0041 a0042	a0001c0001 a0001c0015 a0002c0005 others(26): Show a0001c0001 a0001c0015 a0002c0005 a0002c0012 a0002c0029 a0002c0049 a0005c0006 a0005c0023 a0006c0004 a0007c0008 a0008c0007 a0009c0016 a0010c0014 a0011c0017 a0015c0011 a0016c0010 a0017c0013 a0018c0032 a0019c0038 a0024c0026 a0028c0031 a0029c0048 a0032c0036 a0033c0030 a0034c0034 a0035c0037 a0040c0028 a0041c0027 a0042c0033	a0001c0001t0001 a0001c0015t0001 a0002c0005t0001 others(26): Show a0001c0001t0001 a0001c0015t0001 a0002c0005t0001 a0002c0012t0001 a0002c0029t0001 a0002c0049t0001 a0005c0006t0001 a0005c0023t0001 a0006c0004t0001 a0007c0008t0001 a0008c0007t0001 a0009c0016t0001 a0010c0014t0001 a0011c0017t0001 a0015c0011t0001 a0016c0010t0001 a0017c0013t0001 a0018c0032t0001 a0019c0038t0001 a0024c0026t0001 a0028c0031t0001 a0029c0048t0001 a0032c0036t0001 a0033c0030t0001 a0034c0034t0001 a0035c0037t0001 a0040c0028t0001 a0041c0027t0001 a0042c0033t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0015t0001g0003 a0002c0005t0001g0012 a0002c0005t0001g0022 a0002c0005t0001g0035 a0002c0012t0001g0012 a0002c0012t0001g0037 a0002c0029t0001g0033 a0002c0049t0001g0032 a0005c0006t0001g0006 a0005c0006t0001g0027 a0005c0006t0001g0028 a0005c0023t0001g0006 a0006c0004t0001g0002 a0007c0008t0001g0001 a0007c0008t0001g0018 a0007c0008t0001g0041 a0008c0007t0001g0002 a0008c0007t0001g0046 a0009c0016t0001g0003 a0009c0016t0001g0008 a0010c0014t0001g0014 a0011c0017t0001g0048 a0011c0017t0001g0059 a0015c0011t0001g0013 a0016c0010t0001g0006 a0017c0013t0001g0030 a0017c0013t0001g0034 a0018c0032t0001g0001 a0019c0038t0001g0045 a0024c0026t0001g0021 a0028c0031t0001g0018 a0029c0048t0001g0029 a0032c0036t0001g0044 a0033c0030t0001g0058 a0034c0034t0001g0007 a0035c0037t0001g0040 a0040c0028t0001g0031 a0041c0027t0001g0020 a0042c0033t0001g0001	76	108	0.7037	0	c.432 others(5): Show c.432+2T>C		FAM90A17	ENSG00000285720.1	transcript	ENST00000650426.1	protein_coding	3/3					chr8	TogoVar
FANCM_chr14_45130930_45205890	45159080	TTA TTA	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(40): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG02056.hp2 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03831.hp2 HG03927.hp2 NA18940.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18999.hp1 NA19011.hp1 NA19043.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19091.hp1 NA20805.hp1	a0003 a0004 a0010 others(2): Show a0003 a0004 a0010 a0017 a0025	a0003c0002 a0004c0004 a0010c0014 others(2): Show a0003c0002 a0004c0004 a0010c0014 a0017c0027 a0025c0033	a0003c0002t0001 a0004c0004t0001 a0010c0014t0001 others(2): Show a0003c0002t0001 a0004c0004t0001 a0010c0014t0001 a0017c0027t0001 a0025c0033t0001	a0003c0002t0001g0003 a0003c0002t0001g0169 a0003c0002t0001g0170 others(37): Show a0003c0002t0001g0003 a0003c0002t0001g0169 a0003c0002t0001g0170 a0003c0002t0001g0171 a0003c0002t0001g0172 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0179 a0003c0002t0001g0180 a0003c0002t0001g0181 a0003c0002t0001g0182 a0003c0002t0001g0183 a0003c0002t0001g0184 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0188 a0003c0002t0001g0189 a0003c0002t0001g0190 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0197 a0003c0002t0001g0201 a0004c0004t0001g0013 a0004c0004t0001g0026 a0004c0004t0001g0027 a0004c0004t0001g0030 a0004c0004t0001g0109 a0004c0004t0001g0119 a0004c0004t0001g0121 a0004c0004t0001g0122 a0004c0004t0001g0123 a0010c0014t0001g0137 a0010c0014t0001g0138 a0017c0027t0001g0120 a0025c0033t0001g0187	43	235	0.1830	-2	c.139 others(15): Show c.1397-3_1397-2delTA		FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	8/22				INFO_REALIGN_3_PRIME	chr14	TogoVar
FANCM_chr14_45130930_45205890	45185207	TCTTA TCTTA	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18974.hp2 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0002 a0003 a0004 others(16): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0017 a0019 a0020 a0021 a0022 a0024 a0025 a0026	a0002c0003 a0002c0006 a0002c0007 others(22): Show a0002c0003 a0002c0006 a0002c0007 a0002c0008 a0002c0031 a0002c0032 a0003c0002 a0004c0004 a0005c0005 a0006c0010 a0007c0009 a0008c0011 a0008c0025 a0009c0016 a0010c0014 a0011c0015 a0012c0012 a0017c0027 a0019c0029 a0020c0034 a0021c0026 a0022c0030 a0024c0024 a0025c0033 a0026c0019	a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 others(24): Show a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 a0002c0007t0003 a0002c0008t0004 a0002c0008t0007 a0002c0031t0006 a0002c0032t0001 a0003c0002t0001 a0004c0004t0001 a0005c0005t0001 a0006c0010t0001 a0007c0009t0001 a0008c0011t0002 a0008c0025t0002 a0009c0016t0005 a0010c0014t0001 a0011c0015t0001 a0012c0012t0002 a0017c0027t0001 a0019c0029t0001 a0020c0034t0002 a0021c0026t0008 a0022c0030t0001 a0024c0024t0001 a0025c0033t0001 a0026c0019t0001	a0002c0003t0001g0014 a0002c0003t0001g0165 a0002c0003t0001g0166 others(107): Show a0002c0003t0001g0014 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0002g0139 a0002c0003t0002g0150 a0002c0003t0002g0153 a0002c0003t0002g0154 a0002c0003t0002g0155 a0002c0003t0002g0162 a0002c0003t0002g0216 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0006t0002g0207 a0002c0006t0002g0208 a0002c0006t0002g0209 a0002c0006t0002g0210 a0002c0006t0002g0211 a0002c0006t0002g0212 a0002c0006t0002g0213 a0002c0006t0002g0214 a0002c0006t0002g0215 a0002c0007t0003g0143 a0002c0007t0003g0144 a0002c0007t0003g0145 a0002c0007t0003g0146 a0002c0007t0003g0163 a0002c0007t0003g0164 a0002c0008t0004g0140 a0002c0008t0004g0147 a0002c0008t0004g0148 a0002c0008t0004g0149 a0002c0008t0004g0168 a0002c0008t0007g0161 a0002c0031t0006g0159 a0002c0032t0001g0204 a0003c0002t0001g0003 a0003c0002t0001g0169 a0003c0002t0001g0170 a0003c0002t0001g0171 a0003c0002t0001g0172 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0179 a0003c0002t0001g0180 a0003c0002t0001g0181 a0003c0002t0001g0182 a0003c0002t0001g0183 a0003c0002t0001g0184 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0188 a0003c0002t0001g0189 a0003c0002t0001g0190 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0197 a0003c0002t0001g0201 a0004c0004t0001g0013 a0004c0004t0001g0026 a0004c0004t0001g0027 a0004c0004t0001g0030 a0004c0004t0001g0109 a0004c0004t0001g0119 a0004c0004t0001g0121 a0004c0004t0001g0122 a0004c0004t0001g0123 a0005c0005t0001g0151 a0005c0005t0001g0152 a0005c0005t0001g0156 a0005c0005t0001g0157 a0005c0005t0001g0158 a0005c0005t0001g0160 a0005c0005t0001g0205 a0005c0005t0001g0206 a0006c0010t0001g0134 a0006c0010t0001g0135 a0006c0010t0001g0198 a0006c0010t0001g0199 a0006c0010t0001g0200 a0007c0009t0001g0016 a0007c0009t0001g0017 a0007c0009t0001g0018 a0007c0009t0001g0019 a0007c0009t0001g0020 a0008c0011t0002g0001 a0008c0011t0002g0048 a0008c0011t0002g0049 a0008c0025t0002g0133 a0009c0016t0005g0202 a0009c0016t0005g0203 a0010c0014t0001g0137 a0010c0014t0001g0138 a0011c0015t0001g0191 a0011c0015t0001g0192 a0012c0012t0002g0001 a0017c0027t0001g0120 a0019c0029t0001g0221 a0020c0034t0002g0136 a0021c0026t0008g0142 a0022c0030t0001g0014 a0024c0024t0001g0141 a0025c0033t0001g0187 a0026c0019t0001g0023	114	236	0.4831	-4	c.451 others(17): Show c.4516-5_4516-2delCTTA		FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	17/22				INFO_REALIGN_3_PRIME	chr14	TogoVar
FBRSL1_chr12_132485151_132590188	132583017	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG01261.hp2 HG01361.hp2 others(7): Show HG00438.hp2 HG01261.hp2 HG01361.hp2 HG01978.hp1 HG01981.hp2 HG02080.hp1 HG02647.hp2 NA18966.hp1 NA18967.hp2 NA19067.hp2	a0005 a0018 a0022 others(4): Show a0005 a0018 a0022 a0027 a0032 a0035 a0047	a0005c0051 a0018c0033 a0018c0060 others(6): Show a0005c0051 a0018c0033 a0018c0060 a0022c0057 a0022c0058 a0027c0059 a0032c0041 a0035c0042 a0047c0040	a0005c0051t0015 a0018c0033t0001 a0018c0060t0001 others(6): Show a0005c0051t0015 a0018c0033t0001 a0018c0060t0001 a0022c0057t0008 a0022c0058t0006 a0027c0059t0001 a0032c0041t0002 a0035c0042t0002 a0047c0040t0002	a0005c0051t0015g0041 a0018c0033t0001g0244 a0018c0033t0001g0277 others(7): Show a0005c0051t0015g0041 a0018c0033t0001g0244 a0018c0033t0001g0277 a0018c0060t0001g0006 a0022c0057t0008g0067 a0022c0058t0006g0108 a0027c0059t0001g0308 a0032c0041t0002g0214 a0035c0042t0002g0216 a0047c0040t0002g0210	10	346	0.0289	1	c.225 others(5): Show c.2253dupC	p.Ala others(5): Show p.Ala752fs	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	19/19	2674/4839	2254/3009	752/1002	INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132583509	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00597.hp2 HG00642.hp1 others(41): Show HG00408.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01934.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02155.hp2 HG02293.hp1 HG02523.hp1 HG02615.hp1 HG02809.hp1 HG03195.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG04204.hp2 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18975.hp2 NA18986.hp1 NA18990.hp1 NA19000.hp2 NA19012.hp1 NA19012.hp2 NA19067.hp1 NA19090.hp1	a0004 a0005 a0011 others(10): Show a0004 a0005 a0011 a0012 a0013 a0014 a0018 a0024 a0025 a0032 a0034 a0042 a0044	a0004c0015 a0004c0020 a0004c0030 others(20): Show a0004c0015 a0004c0020 a0004c0030 a0004c0062 a0004c0067 a0004c0069 a0005c0052 a0011c0009 a0012c0023 a0012c0036 a0013c0034 a0013c0064 a0013c0065 a0013c0066 a0014c0016 a0018c0033 a0018c0060 a0024c0029 a0025c0039 a0032c0041 a0034c0043 a0042c0085 a0044c0077	a0004c0015t0001 a0004c0015t0003 a0004c0015t0007 others(28): Show a0004c0015t0001 a0004c0015t0003 a0004c0015t0007 a0004c0015t0023 a0004c0020t0007 a0004c0030t0012 a0004c0062t0041 a0004c0067t0003 a0004c0069t0003 a0005c0052t0005 a0011c0009t0001 a0011c0009t0002 a0012c0023t0001 a0012c0036t0001 a0012c0036t0002 a0013c0034t0004 a0013c0034t0005 a0013c0064t0006 a0013c0065t0013 a0013c0066t0003 a0014c0016t0001 a0018c0033t0001 a0018c0060t0001 a0024c0029t0001 a0024c0029t0002 a0025c0039t0004 a0025c0039t0017 a0032c0041t0002 a0034c0043t0008 a0042c0085t0004 a0044c0077t0001	a0004c0015t0001g0014 a0004c0015t0003g0050 a0004c0015t0007g0080 others(41): Show a0004c0015t0001g0014 a0004c0015t0003g0050 a0004c0015t0007g0080 a0004c0015t0023g0026 a0004c0020t0007g0123 a0004c0020t0007g0280 a0004c0020t0007g0294 a0004c0030t0012g0142 a0004c0030t0012g0144 a0004c0062t0041g0139 a0004c0067t0003g0036 a0004c0069t0003g0031 a0005c0052t0005g0090 a0011c0009t0001g0226 a0011c0009t0002g0158 a0011c0009t0002g0176 a0011c0009t0002g0221 a0011c0009t0002g0224 a0011c0009t0002g0228 a0012c0023t0001g0241 a0012c0023t0001g0285 a0012c0023t0001g0293 a0012c0036t0001g0307 a0012c0036t0002g0135 a0013c0034t0004g0113 a0013c0034t0005g0097 a0013c0064t0006g0106 a0013c0065t0013g0001 a0013c0066t0003g0035 a0014c0016t0001g0088 a0014c0016t0001g0256 a0014c0016t0001g0257 a0014c0016t0001g0300 a0018c0033t0001g0244 a0018c0033t0001g0277 a0018c0060t0001g0006 a0024c0029t0001g0163 a0024c0029t0002g0192 a0025c0039t0004g0321 a0025c0039t0017g0328 a0032c0041t0002g0214 a0034c0043t0008g0174 a0042c0085t0004g0318 a0044c0077t0001g0058	44	346	0.1272	1	c.274 others(5): Show c.2745dupC	p.Ala others(5): Show p.Ala916fs	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	19/19	3166/4839	2746/3009	916/1002	INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXL18_chr7_5470797_5518809	5500960	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00544.hp2 HG00735.hp1 HG00738.hp1 others(36): Show HG00544.hp2 HG00735.hp1 HG00738.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01993.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02257.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02647.hp2 HG02698.hp1 HG02886.hp2 HG03239.hp1 HG03471.hp2 HG03927.hp2 HG04228.hp2 NA18945.hp2 NA18950.hp2 NA18964.hp1 NA18966.hp2 NA18995.hp2 NA18998.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19070.hp1 NA20752.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0004 a0002c0006 a0002c0017 others(3): Show a0002c0004 a0002c0006 a0002c0017 a0004c0014 a0004c0027 a0005c0016	a0002c0004t0001 a0002c0004t0005 a0002c0004t0006 others(16): Show a0002c0004t0001 a0002c0004t0005 a0002c0004t0006 a0002c0004t0012 a0002c0004t0014 a0002c0004t0041 a0002c0004t0066 a0002c0004t0073 a0002c0006t0001 a0002c0006t0002 a0002c0006t0007 a0002c0006t0015 a0002c0006t0016 a0002c0006t0079 a0002c0017t0001 a0004c0014t0003 a0004c0014t0029 a0004c0027t0003 a0005c0016t0001	a0002c0004t0001g0017 a0002c0004t0001g0137 a0002c0004t0001g0145 others(35): Show a0002c0004t0001g0017 a0002c0004t0001g0137 a0002c0004t0001g0145 a0002c0004t0001g0149 a0002c0004t0001g0168 a0002c0004t0001g0174 a0002c0004t0001g0175 a0002c0004t0001g0190 a0002c0004t0001g0191 a0002c0004t0001g0192 a0002c0004t0001g0218 a0002c0004t0001g0225 a0002c0004t0001g0265 a0002c0004t0001g0277 a0002c0004t0005g0167 a0002c0004t0005g0176 a0002c0004t0005g0217 a0002c0004t0006g0007 a0002c0004t0012g0238 a0002c0004t0014g0066 a0002c0004t0041g0231 a0002c0004t0066g0119 a0002c0004t0073g0269 a0002c0006t0001g0160 a0002c0006t0002g0031 a0002c0006t0002g0072 a0002c0006t0002g0080 a0002c0006t0002g0098 a0002c0006t0002g0104 a0002c0006t0007g0283 a0002c0006t0015g0073 a0002c0006t0016g0242 a0002c0006t0079g0318 a0002c0017t0001g0247 a0004c0014t0003g0044 a0004c0014t0029g0298 a0004c0027t0003g0037 a0005c0016t0001g0162	39	336	0.1161	1	c.130 others(5): Show c.1308dupC	p.Ala others(5): Show p.Ala437fs	FBXL18	ENSG00000155034.21	transcript	ENST00000382368.8	protein_coding	3/5	1443/8270	1308/2157	436/718		chr7	TogoVar
FLG2_chr1_152343735_152365006	152350656	G G	T T	stop_gained stop_gained	HIGH	HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show HG00323.hp2 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0003 a0004 a0005 others(9): Show a0003 a0004 a0005 a0006 a0016 a0018 a0019 a0020 a0032 a0034 a0036 a0037	a0003c0002 a0003c0042 a0003c0043 others(12): Show a0003c0002 a0003c0042 a0003c0043 a0004c0004 a0004c0045 a0005c0005 a0006c0007 a0016c0025 a0018c0023 a0019c0022 a0020c0028 a0032c0049 a0034c0044 a0036c0026 a0037c0027	a0003c0002t0002 a0003c0002t0012 a0003c0002t0019 others(16): Show a0003c0002t0002 a0003c0002t0012 a0003c0002t0019 a0003c0042t0002 a0003c0043t0002 a0004c0004t0002 a0004c0045t0002 a0005c0005t0002 a0005c0005t0006 a0005c0005t0008 a0006c0007t0002 a0016c0025t0002 a0018c0023t0013 a0019c0022t0002 a0020c0028t0002 a0032c0049t0002 a0034c0044t0002 a0036c0026t0002 a0037c0027t0002	a0003c0002t0002g0002 a0003c0002t0002g0072 a0003c0002t0002g0074 others(20): Show a0003c0002t0002g0002 a0003c0002t0002g0072 a0003c0002t0002g0074 a0003c0002t0012g0022 a0003c0002t0019g0068 a0003c0042t0002g0065 a0003c0043t0002g0066 a0004c0004t0002g0004 a0004c0004t0002g0021 a0004c0045t0002g0069 a0005c0005t0002g0007 a0005c0005t0002g0033 a0005c0005t0006g0018 a0005c0005t0008g0023 a0006c0007t0002g0005 a0016c0025t0002g0032 a0018c0023t0013g0031 a0019c0022t0002g0030 a0020c0028t0002g0055 a0032c0049t0002g0071 a0034c0044t0002g0067 a0036c0026t0002g0053 a0037c0027t0002g0054	155	420	0.3690	0	c.713 others(4): Show c.7130C>A	p.Ser others(5): Show p.Ser2377*	FLG2	ENSG00000143520.6	transcript	ENST00000388718.5	protein_coding	3/3	7203/9124	7130/7176	2377/2391		chr1	TogoVar
FOLR3_chr11_72130725_72144892	72139110	CTA CTA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(332): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0018 a0001c0019 a0003c0004 a0003c0014	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0001c0012t0001 a0001c0018t0001 a0001c0019t0001 a0003c0004t0001 a0003c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0002g0001 a0001c0003t0001g0001 a0001c0003t0001g0009 a0001c0003t0001g0018 a0001c0003t0001g0022 a0001c0005t0001g0004 a0001c0010t0001g0002 a0001c0012t0001g0002 a0001c0018t0001g0001 a0001c0019t0001g0001 a0003c0004t0001g0001 a0003c0014t0001g0001	335	382	0.8770	-2	c.320 others(9): Show c.320_321delAT	p.Tyr others(5): Show p.Tyr107fs	FOLR3	ENSG00000110203.10	transcript	ENST00000611028.3	protein_coding	3/5	370/849	320/738	107/245	INFO_REALIGN_3_PRIME	chr11	TogoVar
FOXD4L5_chr9_65277101_65290209	65283162	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00323.hp2 HG00597.hp1 others(52): Show HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00597.hp2 HG00741.hp1 HG01175.hp1 HG02015.hp2 HG02027.hp1 HG02145.hp1 HG02145.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18966.hp2 NA18977.hp2 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19001.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0005 a0006 others(4): Show a0001 a0005 a0006 a0008 a0009 a0010 a0011	a0001c0001 a0001c0012 a0001c0015 others(6): Show a0001c0001 a0001c0012 a0001c0015 a0005c0007 a0006c0008 a0008c0010 a0009c0014 a0010c0013 a0011c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0012t0001 a0001c0015t0001 a0005c0007t0009 a0006c0008t0001 a0008c0010t0001 a0009c0014t0001 a0010c0013t0001 a0011c0011t0001	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(12): Show a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0015g0000 a0001c0001t0016g0000 a0001c0012t0001g0000 a0001c0015t0001g0000 a0005c0007t0009g0000 a0006c0008t0001g0000 a0008c0010t0001g0000 a0009c0014t0001g0000 a0010c0013t0001g0000 a0011c0011t0001g0000	55	80	0.6875	-1	c.121 others(5): Show c.1215delC	p.Trp others(5): Show p.Trp406fs	FOXD4L5	ENSG00000204779.2	transcript	ENST00000377420.1	protein_coding	1/1	2047/3109	1215/1251	405/416		chr9	TogoVar
FOXD4_chr9_111231_123417	116800	C C	G G	stop_lost stop_lost	HIGH	HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show HG00423.hp1 HG00544.hp1 HG00639.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02273.hp2 HG02293.hp2 HG02572.hp2 HG02738.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA20805.hp1	a0002 a0005 a0022 others(2): Show a0002 a0005 a0022 a0025 a0027	a0002c0002 a0002c0016 a0002c0040 others(5): Show a0002c0002 a0002c0016 a0002c0040 a0005c0006 a0005c0038 a0022c0039 a0025c0027 a0027c0043	a0002c0002t0002 a0002c0002t0008 a0002c0002t0011 others(9): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0011 a0002c0002t0019 a0002c0016t0002 a0002c0040t0002 a0005c0006t0002 a0005c0006t0008 a0005c0038t0022 a0022c0039t0017 a0025c0027t0002 a0027c0043t0008	a0002c0002t0002g0000 a0002c0002t0008g0000 a0002c0002t0011g0000 others(9): Show a0002c0002t0002g0000 a0002c0002t0008g0000 a0002c0002t0011g0000 a0002c0002t0019g0000 a0002c0016t0002g0000 a0002c0040t0002g0000 a0005c0006t0002g0000 a0005c0006t0008g0000 a0005c0038t0022g0000 a0022c0039t0017g0000 a0025c0027t0002g0000 a0027c0043t0008g0000	108	450	0.2400	0	c.132 others(4): Show c.1320G>C	p.Ter others(11): Show p.Ter440Tyrext*?	FOXD4	ENSG00000170122.6	transcript	ENST00000382500.4	protein_coding	1/1	1618/2187	1320/1320	440/439		chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125301963	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00544.hp2 HG00621.hp1 HG01081.hp2 others(27): Show HG00544.hp2 HG00621.hp1 HG01081.hp2 HG01123.hp1 HG01255.hp2 HG01257.hp1 HG01361.hp2 HG01993.hp2 HG02027.hp1 HG02074.hp1 HG02129.hp2 HG04228.hp2 NA18940.hp1 NA18949.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18979.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp2 NA19054.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0038 a0001c0002t0003 a0001c0002t0007 a0001c0002t0038	a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0144 others(27): Show a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0144 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0149 a0001c0002t0003g0152 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0170 a0001c0002t0007g0001 a0001c0002t0007g0145 a0001c0002t0007g0148 a0001c0002t0007g0150 a0001c0002t0007g0151 a0001c0002t0007g0153 a0001c0002t0007g0161 a0001c0002t0007g0162 a0001c0002t0007g0168 a0001c0002t0007g0169 a0001c0002t0038g0001	30	313	0.0958	2	c.186 others(13): Show c.186-4_186-3dupTT		GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27				INFO_REALIGN_3_PRIME	chr9	TogoVar
GMIP_chr19_19624476_19648657	19637409	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00609.hp1 HG01099.hp1 HG01978.hp1 others(18): Show HG00609.hp1 HG01099.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02145.hp1 HG03688.hp2 HG03927.hp1 HG04199.hp2 NA18966.hp1 NA18967.hp2 NA18977.hp2 NA18985.hp2 NA18992.hp2 NA19012.hp1 NA19012.hp2 NA19063.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0009 others(1): Show a0002c0002 a0002c0008 a0002c0009 a0002c0016	a0002c0002t0001 a0002c0002t0002 a0002c0008t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0008t0001 a0002c0009t0001 a0002c0009t0002 a0002c0016t0001	a0002c0002t0001g0016 a0002c0002t0001g0020 a0002c0002t0001g0062 others(12): Show a0002c0002t0001g0016 a0002c0002t0001g0020 a0002c0002t0001g0062 a0002c0002t0001g0080 a0002c0002t0001g0089 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0165 a0002c0002t0002g0055 a0002c0002t0002g0152 a0002c0002t0002g0184 a0002c0008t0001g0041 a0002c0009t0001g0061 a0002c0009t0002g0159 a0002c0016t0001g0130	21	414	0.0507	1	c.107 others(5): Show c.1079dupC	p.Pro others(5): Show p.Pro361fs	GMIP	ENSG00000089639.11	transcript	ENST00000203556.9	protein_coding	11/21	1207/3528	1079/2913	360/970		chr19	TogoVar
GNRH2_chr20_3038622_3050747	3045699	A A	AGCCCC AGCCCC	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01496.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02738.hp2 HG02818.hp1 HG02965.hp2 HG03209.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18939.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18957.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA20300.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0002g0002 others(1): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0002g0002 a0002c0002t0002g0020	101	443	0.2280	5	c.319 others(12): Show c.319_323dupCCGCC	p.Ser others(5): Show p.Ser109fs	GNRH2	ENSG00000125787.11	transcript	ENST00000359100.6	protein_coding	4/4	375/404	324/342	108/113	INFO_REALIGN_3_PRIME	chr20	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345107	A A	ATGTAGCC others(33): Show ATGTAGCCTCTCCTCCTGTACACGTAGCCTCTCCTCCTGTT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(57): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00642.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01952.hp2 HG02080.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp2 NA18949.hp2 NA18952.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18972.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19055.hp1 NA19060.hp2 NA19062.hp2 NA19090.hp1 NA20805.hp2	a0002 a0038 a0002 a0038	a0002c0002 a0002c0049 a0038c0044 a0002c0002 a0002c0049 a0038c0044	a0002c0002t0002 a0002c0002t0011 a0002c0002t0017 others(3): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0017 a0002c0002t0025 a0002c0049t0002 a0038c0044t0019	a0002c0002t0002g0001 a0002c0002t0002g0017 a0002c0002t0002g0037 others(17): Show a0002c0002t0002g0001 a0002c0002t0002g0017 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0011g0036 a0002c0002t0011g0039 a0002c0002t0017g0044 a0002c0002t0025g0139 a0002c0049t0002g0133 a0038c0044t0019g0127	60	295	0.2034	40	c.752 others(47): Show c.752_753insAACAGGAGGAGAGGCTACGTGTACAGGAGGAGAGGCTA CA	p.Cys others(5): Show p.Cys251fs	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	852/4452	752/1569	251/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345110	C C	CGT CGT	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(63): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00642.hp2 HG00733.hp1 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01952.hp2 HG02080.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp2 NA18949.hp2 NA18952.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18972.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19043.hp1 NA19055.hp1 NA19060.hp2 NA19062.hp2 NA19090.hp1 NA20805.hp2	a0002 a0013 a0029 others(2): Show a0002 a0013 a0029 a0036 a0038	a0002c0002 a0002c0049 a0013c0012 others(3): Show a0002c0002 a0002c0049 a0013c0012 a0029c0050 a0036c0040 a0038c0044	a0002c0002t0002 a0002c0002t0011 a0002c0002t0017 others(7): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0017 a0002c0002t0025 a0002c0002t0030 a0002c0049t0002 a0013c0012t0002 a0029c0050t0026 a0036c0040t0001 a0038c0044t0019	a0002c0002t0002g0001 a0002c0002t0002g0017 a0002c0002t0002g0037 others(21): Show a0002c0002t0002g0001 a0002c0002t0002g0017 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0011g0036 a0002c0002t0011g0039 a0002c0002t0017g0044 a0002c0002t0025g0139 a0002c0002t0030g0132 a0002c0049t0002g0133 a0013c0012t0002g0018 a0029c0050t0026g0144 a0036c0040t0001g0088 a0038c0044t0019g0127	66	188	0.3511	2	c.749 others(9): Show c.749_750insAC	p.Cys others(5): Show p.Cys251fs	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	849/4452	749/1569	250/522		chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22466823	T T	C C	stop_lost others(1): Show stop_lost splice_region_variant	HIGH	HG00597.hp2 HG00673.hp2 HG02027.hp1 others(27): Show HG00597.hp2 HG00673.hp2 HG02027.hp1 HG02040.hp1 HG02083.hp1 HG02165.hp1 HG02886.hp2 NA18944.hp1 NA18947.hp1 NA18957.hp2 NA18966.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18980.hp2 NA18990.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19072.hp1 NA19080.hp1 NA19080.hp2 NA19088.hp1 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0006	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0005c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0016 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0016 a0002c0002t0002g0002 a0003c0003t0001g0001 a0005c0006t0003g0031	30	224	0.1339	0	c.256 others(4): Show c.2563T>C	p.Ter others(11): Show p.Ter855Glnext*?	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	2654/4401	2563/2565	855/854		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(409): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCACATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGGCCCCGCATCTTCTCCTCCTGGTCCCGCATCTTCTCCTCCTGCTCCC ATATCTTCTCCTGCTCCTGCATCTTCTCGTGTTCCCACAGCTTCTCCTTC TGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0052 a0003c0052	a0003c0052t0001 a0003c0052t0001	a0003c0052t0001g0073 a0003c0052t0001g0073	1	92	0.0109	416	c.239 others(425): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGCCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTG GGGCCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGTGGGGGCAG GAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGCAGGAGGAGAA GATGCGGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCG GGGGACAGGAGGAGAAGATGCGGGGGCCAG	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(430): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCCC GCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTCG TGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(212): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0006 a0015 others(8): Show a0001 a0006 a0015 a0018 a0020 a0021 a0027 a0029 a0030 a0031 a0032	a0001c0001 a0001c0014 a0001c0023 others(15): Show a0001c0001 a0001c0014 a0001c0023 a0001c0027 a0001c0037 a0001c0047 a0001c0048 a0001c0049 a0006c0007 a0015c0035 a0018c0057 a0020c0061 a0021c0036 a0027c0029 a0029c0034 a0030c0064 a0031c0062 a0032c0058	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0014t0001 a0001c0023t0001 a0001c0027t0001 a0001c0037t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0006c0007t0001 a0015c0035t0001 a0018c0057t0001 a0020c0061t0001 a0021c0036t0004 a0027c0029t0004 a0029c0034t0004 a0030c0064t0001 a0031c0062t0001 a0032c0058t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0003g0004 a0001c0001t0003g0027 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0046 a0001c0001t0004g0060 a0001c0001t0004g0097 a0001c0001t0009g0032 a0001c0001t0012g0035 a0001c0001t0018g0069 a0001c0001t0020g0091 a0001c0001t0023g0098 a0001c0014t0001g0012 a0001c0023t0001g0044 a0001c0027t0001g0057 a0001c0037t0001g0061 a0001c0047t0001g0068 a0001c0048t0001g0070 a0001c0049t0001g0071 a0006c0007t0001g0009 a0006c0007t0001g0034 a0006c0007t0001g0050 a0015c0035t0001g0086 a0018c0057t0001g0095 a0020c0061t0001g0101 a0021c0036t0004g0045 a0027c0029t0004g0106 a0029c0034t0004g0058 a0030c0064t0001g0125 a0031c0062t0001g0102 a0032c0058t0001g0078	215	306	0.7026	437	c.239 others(446): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAA GATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGG GGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCCA G	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440318	T T	TCCCGCAT others(208): Show TCCCGCATCTTCTCCTCCTGCTTCCGCATCTTCTCCTCCTGCTCCCACAT CTGCTTCTCCTGCTCCTGCAGCCTCTCCTCCTGTCTCCACATCTTCCTGC TCCCGCATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACAT CTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGGTCCCGCATCTTCTCCT GCTCCCATATCTTCTC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0006 others(19): Show a0001 a0003 a0006 a0009 a0011 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0021 a0022 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0035	a0001c0001 a0001c0005 a0001c0010 others(44): Show a0001c0001 a0001c0005 a0001c0010 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0023 a0001c0027 a0001c0037 a0001c0038 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0053 a0001c0055 a0003c0004 a0003c0012 a0003c0015 a0003c0051 a0003c0052 a0006c0007 a0009c0018 a0009c0025 a0011c0022 a0013c0020 a0014c0039 a0014c0042 a0015c0035 a0016c0043 a0018c0057 a0019c0041 a0020c0061 a0021c0036 a0022c0024 a0026c0056 a0027c0029 a0028c0040 a0029c0034 a0030c0064 a0031c0062 a0032c0058 a0035c0054	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(55): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0005t0001 a0001c0005t0004 a0001c0010t0001 a0001c0010t0003 a0001c0013t0001 a0001c0014t0001 a0001c0017t0001 a0001c0017t0003 a0001c0021t0001 a0001c0023t0001 a0001c0027t0001 a0001c0037t0001 a0001c0038t0025 a0001c0044t0001 a0001c0045t0001 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0053t0009 a0001c0055t0001 a0003c0004t0001 a0003c0012t0001 a0003c0015t0001 a0003c0051t0001 a0003c0052t0001 a0006c0007t0001 a0009c0018t0010 a0009c0025t0010 a0011c0022t0015 a0011c0022t0016 a0013c0020t0005 a0014c0039t0001 a0014c0042t0001 a0015c0035t0001 a0016c0043t0001 a0018c0057t0001 a0019c0041t0001 a0020c0061t0001 a0021c0036t0004 a0022c0024t0019 a0026c0056t0001 a0027c0029t0004 a0028c0040t0001 a0029c0034t0004 a0030c0064t0001 a0031c0062t0001 a0032c0058t0001 a0035c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0003g0004 a0001c0001t0003g0027 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0046 a0001c0001t0004g0060 a0001c0001t0004g0097 a0001c0001t0009g0032 a0001c0001t0012g0035 a0001c0001t0018g0069 a0001c0001t0020g0091 a0001c0001t0023g0098 a0001c0005t0001g0007 a0001c0005t0001g0080 a0001c0005t0001g0084 a0001c0005t0001g0103 a0001c0005t0004g0085 a0001c0010t0001g0011 a0001c0010t0003g0087 a0001c0013t0001g0014 a0001c0014t0001g0012 a0001c0017t0001g0051 a0001c0017t0003g0033 a0001c0021t0001g0031 a0001c0023t0001g0044 a0001c0027t0001g0057 a0001c0037t0001g0061 a0001c0038t0025g0062 a0001c0044t0001g0089 a0001c0045t0001g0090 a0001c0046t0001g0067 a0001c0047t0001g0068 a0001c0048t0001g0070 a0001c0049t0001g0071 a0001c0050t0001g0072 a0001c0053t0009g0074 a0001c0055t0001g0094 a0003c0004t0001g0006 a0003c0004t0001g0018 a0003c0004t0001g0121 a0003c0012t0001g0021 a0003c0012t0001g0088 a0003c0015t0001g0013 a0003c0051t0001g0092 a0003c0052t0001g0073 a0006c0007t0001g0009 a0006c0007t0001g0034 a0006c0007t0001g0050 a0009c0018t0010g0041 a0009c0025t0010g0119 a0011c0022t0015g0042 a0011c0022t0016g0043 a0013c0020t0005g0040 a0014c0039t0001g0063 a0014c0042t0001g0066 a0015c0035t0001g0086 a0016c0043t0001g0083 a0018c0057t0001g0095 a0019c0041t0001g0065 a0020c0061t0001g0101 a0021c0036t0004g0045 a0022c0024t0019g0056 a0026c0056t0001g0075 a0027c0029t0004g0106 a0028c0040t0001g0064 a0029c0034t0004g0058 a0030c0064t0001g0125 a0031c0062t0001g0102 a0032c0058t0001g0078 a0035c0054t0001g0093	286	393	0.7277	215	c.215 others(224): Show c.2156_2157insGAGAAGATATGGGAGCAGGAGAAGATGCGGGACCAG GAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAA GATGTGGGGGCAGGAGGAGAAGATGCGGGAGCAGGAAGATGTGGAGACAG GAGGAGAGGCTGCAGGAGCAGGAGAAGCAGATGTGGGAGCAGGAGGAGAA GATGCGGAAGCAGGAGGAGAAGATGCGGG	p.Ser others(5): Show p.Ser720fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2218/3499	2156/2730	719/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440394	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(387): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(31): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035	a0001c0001 a0001c0005 a0001c0010 others(59): Show a0001c0001 a0001c0005 a0001c0010 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0023 a0001c0027 a0001c0037 a0001c0038 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0053 a0001c0055 a0002c0002 a0003c0004 a0003c0012 a0003c0015 a0003c0051 a0003c0052 a0004c0003 a0005c0006 a0005c0008 a0005c0031 a0006c0007 a0007c0009 a0009c0018 a0009c0025 a0009c0026 a0010c0016 a0011c0022 a0012c0019 a0013c0020 a0014c0039 a0014c0042 a0015c0035 a0016c0043 a0017c0063 a0018c0057 a0019c0041 a0020c0061 a0021c0036 a0022c0024 a0023c0033 a0024c0028 a0025c0030 a0026c0056 a0027c0029 a0028c0040 a0029c0034 a0030c0064 a0031c0062 a0032c0058 a0033c0060 a0034c0032 a0035c0054	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(82): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0005t0001 a0001c0005t0004 a0001c0010t0001 a0001c0010t0003 a0001c0013t0001 a0001c0014t0001 a0001c0017t0001 a0001c0017t0003 a0001c0021t0001 a0001c0023t0001 a0001c0027t0001 a0001c0037t0001 a0001c0038t0025 a0001c0044t0001 a0001c0045t0001 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0053t0009 a0001c0055t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0002c0002t0017 a0003c0004t0001 a0003c0012t0001 a0003c0015t0001 a0003c0051t0001 a0003c0052t0001 a0004c0003t0002 a0004c0003t0005 a0004c0003t0006 a0005c0006t0007 a0005c0006t0013 a0005c0006t0021 a0005c0006t0024 a0005c0008t0007 a0005c0008t0008 a0005c0008t0022 a0005c0031t0007 a0006c0007t0001 a0007c0009t0002 a0007c0009t0011 a0009c0018t0010 a0009c0025t0010 a0009c0026t0010 a0010c0016t0002 a0011c0022t0015 a0011c0022t0016 a0012c0019t0014 a0013c0020t0005 a0014c0039t0001 a0014c0042t0001 a0015c0035t0001 a0016c0043t0001 a0017c0063t0006 a0018c0057t0001 a0019c0041t0001 a0020c0061t0001 a0021c0036t0004 a0022c0024t0019 a0023c0033t0002 a0024c0028t0002 a0025c0030t0002 a0026c0056t0001 a0027c0029t0004 a0028c0040t0001 a0029c0034t0004 a0030c0064t0001 a0031c0062t0001 a0032c0058t0001 a0033c0060t0005 a0034c0032t0009 a0035c0054t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0003g0004 a0001c0001t0003g0027 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0046 a0001c0001t0004g0060 a0001c0001t0004g0097 a0001c0001t0009g0032 a0001c0001t0012g0035 a0001c0001t0018g0069 a0001c0001t0020g0091 a0001c0001t0023g0098 a0001c0005t0001g0007 a0001c0005t0001g0080 a0001c0005t0001g0084 a0001c0005t0001g0103 a0001c0005t0004g0085 a0001c0010t0001g0011 a0001c0010t0003g0087 a0001c0013t0001g0014 a0001c0014t0001g0012 a0001c0017t0001g0051 a0001c0017t0003g0033 a0001c0021t0001g0031 a0001c0023t0001g0044 a0001c0027t0001g0057 a0001c0037t0001g0061 a0001c0038t0025g0062 a0001c0044t0001g0089 a0001c0045t0001g0090 a0001c0046t0001g0067 a0001c0047t0001g0068 a0001c0048t0001g0070 a0001c0049t0001g0071 a0001c0050t0001g0072 a0001c0053t0009g0074 a0001c0055t0001g0094 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0037 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0005g0025 a0002c0002t0006g0038 a0002c0002t0011g0036 a0002c0002t0017g0105 a0003c0004t0001g0006 a0003c0004t0001g0018 a0003c0004t0001g0121 a0003c0012t0001g0021 a0003c0012t0001g0088 a0003c0015t0001g0013 a0003c0051t0001g0092 a0003c0052t0001g0073 a0004c0003t0002g0008 a0004c0003t0002g0015 a0004c0003t0002g0029 a0004c0003t0002g0030 a0004c0003t0005g0110 a0004c0003t0006g0010 a0004c0003t0006g0047 a0005c0006t0007g0017 a0005c0006t0013g0039 a0005c0006t0021g0116 a0005c0006t0024g0117 a0005c0008t0007g0114 a0005c0008t0008g0019 a0005c0008t0008g0126 a0005c0008t0022g0115 a0005c0031t0007g0113 a0006c0007t0001g0009 a0006c0007t0001g0034 a0006c0007t0001g0050 a0007c0009t0002g0016 a0007c0009t0011g0120 a0009c0018t0010g0041 a0009c0025t0010g0119 a0009c0026t0010g0118 a0010c0016t0002g0026 a0011c0022t0015g0042 a0011c0022t0016g0043 a0012c0019t0014g0052 a0012c0019t0014g0053 a0013c0020t0005g0040 a0014c0039t0001g0063 a0014c0042t0001g0066 a0015c0035t0001g0086 a0016c0043t0001g0083 a0017c0063t0006g0048 a0018c0057t0001g0095 a0019c0041t0001g0065 a0020c0061t0001g0101 a0021c0036t0004g0045 a0022c0024t0019g0056 a0023c0033t0002g0049 a0024c0028t0002g0109 a0025c0030t0002g0111 a0026c0056t0001g0075 a0027c0029t0004g0106 a0028c0040t0001g0064 a0029c0034t0004g0058 a0030c0064t0001g0125 a0031c0062t0001g0102 a0032c0058t0001g0078 a0033c0060t0005g0099 a0034c0032t0009g0079 a0035c0054t0001g0093	390	394	0.9898	-1	c.208 others(5): Show c.2080delA	p.Arg others(5): Show p.Arg694fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2142/3499	2080/2730	694/909		chr15	TogoVar
GOT1L1_chr8_37929281_37945124	37934470	GT GT	G G	frameshift_variant frameshift_variant	HIGH	HG02056.hp2 HG02080.hp2 NA18944.hp1 others(6): Show HG02056.hp2 HG02080.hp2 NA18944.hp1 NA18957.hp1 NA18966.hp2 NA18968.hp1 NA18982.hp2 NA19004.hp2 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0015 a0003c0003t0001g0023 a0003c0003t0001g0015 a0003c0003t0001g0023	9	431	0.0209	-1	c.108 others(5): Show c.1088delA	p.Tyr others(5): Show p.Tyr363fs	GOT1L1	ENSG00000169154.7	transcript	ENST00000307599.5	protein_coding	9/9	1183/1373	1088/1266	363/421		chr8	TogoVar
GP6_chr19_55008705_55043264	55014735	G G	GCAGA GCAGA	frameshift_variant frameshift_variant	HIGH	HG00423.hp2 HG00438.hp2 HG00621.hp1 others(55): Show HG00423.hp2 HG00438.hp2 HG00621.hp1 HG01168.hp2 HG01169.hp1 HG01361.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02071.hp2 HG02074.hp1 HG02135.hp1 HG02148.hp1 HG02486.hp2 HG02630.hp1 HG02683.hp1 HG02922.hp2 HG02976.hp2 HG03225.hp1 HG03490.hp2 HG03540.hp2 HG03942.hp2 HG04204.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18952.hp1 NA18956.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18985.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19005.hp2 NA19054.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp2 NA19066.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19090.hp2	a0003 a0003	a0003c0003 a0003c0016 a0003c0019 others(1): Show a0003c0003 a0003c0016 a0003c0019 a0003c0036	a0003c0003t0003 a0003c0016t0003 a0003c0019t0003 others(1): Show a0003c0003t0003 a0003c0016t0003 a0003c0019t0003 a0003c0036t0003	a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0009 others(48): Show a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0017 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0042 a0003c0003t0003g0043 a0003c0003t0003g0044 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0049 a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0055 a0003c0003t0003g0056 a0003c0003t0003g0057 a0003c0003t0003g0059 a0003c0003t0003g0060 a0003c0003t0003g0061 a0003c0003t0003g0062 a0003c0003t0003g0063 a0003c0003t0003g0064 a0003c0003t0003g0069 a0003c0003t0003g0070 a0003c0003t0003g0072 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0003t0003g0075 a0003c0003t0003g0076 a0003c0003t0003g0077 a0003c0003t0003g0078 a0003c0003t0003g0079 a0003c0003t0003g0248 a0003c0003t0003g0249 a0003c0003t0003g0250 a0003c0003t0003g0309 a0003c0016t0003g0308 a0003c0016t0003g0349 a0003c0016t0003g0372 a0003c0019t0003g0080 a0003c0019t0003g0081 a0003c0036t0003g0058	58	440	0.1318	4	c.120 others(13): Show c.1206_1209dupTCTG	p.Pro others(5): Show p.Pro404fs	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	8/8	1237/2268	1209/1863	403/620		chr19	TogoVar
GPA33_chr1_167047836_167095377	167054975	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18966.hp1 NA18966.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0214 a0005c0007t0002g0214	1	368	0.0027	0	c.827 others(5): Show c.827+1G>T		GPA33	ENSG00000143167.12	transcript	ENST00000367868.4	protein_coding	6/6					chr1	TogoVar
GPR33_chr14_31477875_31493039	31483548	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(422): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0005g0036 a0001c0003t0001g0013 a0001c0003t0001g0029 a0001c0003t0001g0034 a0001c0003t0001g0056 a0001c0003t0001g0071 a0001c0003t0001g0075 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0007t0001g0044 a0001c0008t0001g0048 a0001c0009t0001g0078 a0001c0010t0001g0043 a0001c0011t0001g0054 a0003c0004t0001g0017 a0003c0004t0001g0027 a0004c0005t0001g0063 a0004c0005t0001g0067	425	446	0.9529	0	c.418 others(3): Show c.418C>T	p.Arg others(4): Show p.Arg140*	GPR33	ENSG00000214943.5	transcript	ENST00000399285.5	protein_coding	2/2	567/1240	418/1002	140/333		chr14	TogoVar
GPR78_chr4_8575392_8595023	8582572	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG02080.hp2 HG04115.hp1 others(16): Show HG00621.hp1 HG02080.hp2 HG04115.hp1 HG04199.hp2 NA18965.hp2 NA18966.hp1 NA18978.hp2 NA18985.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp2 NA19006.hp2 NA19012.hp1 NA19059.hp1 NA19062.hp1 NA19063.hp2 NA19068.hp2 NA19077.hp2 NA19090.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 others(8): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0007 a0004c0004t0009 a0004c0004t0015 a0004c0004t0018 a0004c0004t0019 a0004c0004t0049 a0004c0004t0062 a0004c0004t0071	a0004c0004t0001g0009 a0004c0004t0001g0173 a0004c0004t0002g0001 others(15): Show a0004c0004t0001g0009 a0004c0004t0001g0173 a0004c0004t0002g0001 a0004c0004t0002g0002 a0004c0004t0002g0096 a0004c0004t0003g0006 a0004c0004t0003g0021 a0004c0004t0003g0074 a0004c0004t0003g0139 a0004c0004t0007g0022 a0004c0004t0009g0015 a0004c0004t0009g0129 a0004c0004t0015g0032 a0004c0004t0018g0018 a0004c0004t0019g0006 a0004c0004t0049g0135 a0004c0004t0062g0144 a0004c0004t0071g0104	19	459	0.0414	1	c.712 others(4): Show c.712dupC	p.Arg others(5): Show p.Arg238fs	GPR78	ENSG00000155269.12	transcript	ENST00000382487.5	protein_coding	2/3	1304/4343	713/1092	238/363	INFO_REALIGN_3_PRIME	chr4	TogoVar
GRIN2C_chr17_74837023_74864885	74850238	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG01109.hp2 NA18944.hp2 NA18966.hp1 others(2): Show HG01109.hp2 NA18944.hp2 NA18966.hp1 NA18997.hp1 NA19057.hp1	a0004 a0004	a0004c0016 a0004c0031 a0004c0033 others(1): Show a0004c0016 a0004c0031 a0004c0033 a0004c0035	a0004c0016t0001 a0004c0031t0001 a0004c0033t0001 others(1): Show a0004c0016t0001 a0004c0031t0001 a0004c0033t0001 a0004c0035t0001	a0004c0016t0001g0151 a0004c0016t0001g0152 a0004c0031t0001g0150 others(2): Show a0004c0016t0001g0151 a0004c0016t0001g0152 a0004c0031t0001g0150 a0004c0033t0001g0044 a0004c0035t0001g0088	5	356	0.0140	1	c.145 others(10): Show c.1458_1459insT	p.Val others(5): Show p.Val487fs	GRIN2C	ENSG00000161509.14	transcript	ENST00000293190.10	protein_coding	6/13	1615/4271	1458/3702	486/1233		chr17	TogoVar
GUCA1C_chr3_108902792_108958879	108916126	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(107): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp1 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0002c0002 a0002c0004 others(6): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0005c0006 a0006c0008 a0007c0007 a0008c0009	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001 a0006c0008t0001 a0007c0007t0001 a0008c0009t0001	a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 others(106): Show a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0002c0002t0001g0028 a0002c0002t0001g0067 a0002c0002t0001g0184 a0002c0002t0001g0224 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0231 a0002c0002t0001g0233 a0002c0002t0001g0247 a0002c0002t0001g0251 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0284 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0311 a0002c0002t0001g0313 a0002c0002t0001g0318 a0002c0004t0001g0357 a0002c0004t0001g0359 a0002c0004t0001g0361 a0002c0004t0001g0362 a0003c0003t0001g0003 a0003c0003t0001g0011 a0003c0003t0001g0034 a0003c0003t0001g0039 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0046 a0003c0003t0001g0048 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0058 a0003c0003t0001g0061 a0003c0003t0001g0063 a0003c0003t0001g0098 a0003c0003t0001g0235 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0323 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0001g0343 a0003c0003t0001g0348 a0003c0003t0001g0349 a0003c0003t0001g0350 a0003c0003t0001g0352 a0003c0003t0001g0353 a0003c0003t0001g0354 a0003c0003t0001g0355 a0004c0005t0001g0185 a0004c0005t0001g0186 a0004c0005t0001g0214 a0004c0005t0001g0216 a0004c0005t0001g0217 a0004c0005t0001g0276 a0005c0006t0001g0110 a0006c0008t0001g0223 a0006c0008t0001g0226 a0007c0007t0001g0014 a0007c0007t0001g0019 a0007c0007t0001g0065 a0008c0009t0001g0189 a0008c0009t0001g0190	110	372	0.2957	0	c.442 others(5): Show c.442+1G>T		GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3					chr3	TogoVar
HIBCH_chr2_190198920_190324826	190319749	A A	G G	start_lost start_lost	HIGH	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(100): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02135.hp2 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18941.hp2 NA18942.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18975.hp2 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA19010.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0004 a0003c0009 a0003c0003 a0003c0004 a0003c0009	a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 others(8): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0007 a0003c0003t0009 a0003c0003t0013 a0003c0003t0014 a0003c0003t0017 a0003c0003t0020 a0003c0004t0005 a0003c0009t0003	a0003c0003t0002g0179 a0003c0003t0002g0195 a0003c0003t0002g0197 others(97): Show a0003c0003t0002g0179 a0003c0003t0002g0195 a0003c0003t0002g0197 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0043 a0003c0003t0003g0044 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0049 a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0055 a0003c0003t0003g0056 a0003c0003t0003g0057 a0003c0003t0003g0058 a0003c0003t0003g0061 a0003c0003t0003g0062 a0003c0003t0003g0063 a0003c0003t0003g0064 a0003c0003t0003g0065 a0003c0003t0003g0066 a0003c0003t0003g0067 a0003c0003t0003g0068 a0003c0003t0003g0069 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0003t0003g0075 a0003c0003t0003g0076 a0003c0003t0003g0077 a0003c0003t0003g0078 a0003c0003t0003g0080 a0003c0003t0003g0081 a0003c0003t0003g0082 a0003c0003t0003g0083 a0003c0003t0003g0084 a0003c0003t0005g0011 a0003c0003t0005g0174 a0003c0003t0005g0175 a0003c0003t0005g0176 a0003c0003t0005g0177 a0003c0003t0005g0178 a0003c0003t0005g0180 a0003c0003t0005g0184 a0003c0003t0005g0185 a0003c0003t0005g0186 a0003c0003t0005g0187 a0003c0003t0005g0188 a0003c0003t0005g0189 a0003c0003t0005g0190 a0003c0003t0005g0191 a0003c0003t0005g0192 a0003c0003t0005g0193 a0003c0003t0005g0194 a0003c0003t0005g0196 a0003c0003t0005g0198 a0003c0003t0005g0199 a0003c0003t0007g0016 a0003c0003t0007g0026 a0003c0003t0007g0036 a0003c0003t0007g0042 a0003c0003t0009g0059 a0003c0003t0009g0060 a0003c0003t0013g0048 a0003c0003t0014g0173 a0003c0003t0017g0200 a0003c0003t0020g0346 a0003c0004t0005g0181 a0003c0004t0005g0182 a0003c0004t0005g0183 a0003c0009t0003g0079	103	366	0.2814	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	1/14	78/2434	2/1161	1/386		chr2	TogoVar
HLA-DPB1_chr6_33070990_33094696	33080689	G G	T T	stop_gained stop_gained	HIGH	HG00280.hp1 HG00323.hp1 HG00673.hp1 others(113): Show HG00280.hp1 HG00323.hp1 HG00673.hp1 HG00733.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02273.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19079.hp2 NA19081.hp2 NA19087.hp2 NA20752.hp1 NA21309.hp2	a0006 a0007 a0009 others(13): Show a0006 a0007 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0030 a0032 a0034 a0035	a0006c0008 a0006c0010 a0006c0037 others(15): Show a0006c0008 a0006c0010 a0006c0037 a0007c0006 a0009c0009 a0011c0012 a0012c0013 a0013c0014 a0014c0015 a0015c0018 a0016c0022 a0017c0021 a0018c0019 a0019c0020 a0030c0035 a0032c0034 a0034c0036 a0035c0031	a0006c0008t0003 a0006c0008t0012 a0006c0010t0003 others(18): Show a0006c0008t0003 a0006c0008t0012 a0006c0010t0003 a0006c0010t0026 a0006c0037t0006 a0007c0006t0003 a0009c0009t0006 a0009c0009t0020 a0011c0012t0006 a0012c0013t0008 a0013c0014t0007 a0014c0015t0001 a0015c0018t0013 a0016c0022t0003 a0017c0021t0003 a0018c0019t0014 a0019c0020t0003 a0030c0035t0006 a0032c0034t0016 a0034c0036t0003 a0035c0031t0029	a0006c0008t0003g0009 a0006c0008t0003g0013 a0006c0008t0003g0070 others(31): Show a0006c0008t0003g0009 a0006c0008t0003g0013 a0006c0008t0003g0070 a0006c0008t0012g0009 a0006c0010t0003g0007 a0006c0010t0003g0101 a0006c0010t0026g0007 a0006c0037t0006g0067 a0007c0006t0003g0005 a0009c0009t0006g0015 a0009c0009t0006g0033 a0009c0009t0006g0078 a0009c0009t0006g0079 a0009c0009t0006g0080 a0009c0009t0020g0084 a0009c0009t0020g0085 a0011c0012t0006g0010 a0012c0013t0008g0027 a0012c0013t0008g0029 a0012c0013t0008g0066 a0012c0013t0008g0068 a0013c0014t0007g0014 a0013c0014t0007g0072 a0014c0015t0001g0021 a0014c0015t0001g0077 a0015c0018t0013g0034 a0016c0022t0003g0013 a0017c0021t0003g0038 a0018c0019t0014g0042 a0019c0020t0003g0007 a0030c0035t0006g0015 a0032c0034t0016g0087 a0034c0036t0003g0013 a0035c0031t0029g0062	116	454	0.2555	0	c.118 others(3): Show c.118G>T	p.Gly others(3): Show p.Gly40*	HLA-DPB1	ENSG00000223865.11	transcript	ENST00000418931.7	protein_coding	2/6	170/3991	118/777	40/258		chr6	TogoVar
HP_chr16_72049505_72066055	72056410	GGCTTCTA others(1717): Show GGCTTCTATTCGGGGTGGAAGGAGATTGATGTGCAGAGCAGCTCCCGCTC ATCTGACTTTTCACGGTTCACTGGGAACAATTTCCAAATAGCAAACTCTC TGGCTTCTCTCTCTTTGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTG CACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGTAAGAACTACTAC AAACTGCGCACAGAAGGAGATGGTAAGATGTGGACAACTGTCTCCATGCC CTACATACAACCCCCTTCTCTGACATTTCCATGATGGGTGGTGCTGAGGT GATTCGCCAGAAAGTTCGTTGCTCTCCTTGGAGCCAGGAGATTTAGATTC TAATAAGCGTTTTGTCGCCAGTAGCCATGGCCCTTTGGGCAGACTAACTT TTGTCAGCCTCAAGTTTTCTGTTTTGTTAAGGGGAGGCGATGCCATGCAG CCTACCTCATGTAAATCTCAGAGTCACATTTACATCTCCAGCAGATGTGG GAAAAGAAGGAATGCTGATGATGATGTCACCCTCACCTAGTGAGTCTTGC TGTCCTGGCACTGCTCTAAGGGCTTTATACTTATTTGCTCACTTAGTCCT CACAGTATCCCTCTGAACAGAGTTTATTGTTTTCACTTTGCTGATAAGGA AACTGAGGCACAGACAGGTTGAGTATCTTGCCCAAATTCAGGCAGCCTGT AAGAGGCAGAGTCAGGATTTGAACCCTGAGCCCTCCCTGTACTGCTTGGC TGTGACCGCCATGACCACAGTGTGTTCTGCTGGGCTTAACTGGTGTCCAG GCACTTGGCTTCCAGCACAGCACTCTTTCCCTTCCTCCTTCTCATATTCT CTCTCCTTTCTCCCTTCCTGTCTGCCTCCTTTCTTCTTCTTCTTTTTAAT TCTTCTCCTTAAATGCCTTCTCACTCTGCTCTGGGTGCAGACTTGACTTT TCCTTTGGCTCATTTCTTGCCTTTTGTTTCAGGAGTATACACCTTAAATG ATAAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTGAATGT GAAGCAGGTGGGTGCTGAGCACTGAGCACTTAAGAGAGCAGGCAGGCGTC CAGCGGGGAACGTCCTAGAGGCACAGCCTTCCAGTGCGGCTTCCTCTGAG CACACAAGAGCCAGGAGGAGGGATGTGGGAGAACCGCAGCTGGCCAGGGA GAGACTTAAGCAGTTAGGTGATGACTCCCTAAGGGTCACCAAGGGTCTTG TTCATTGGGGCCTGAAGGGCACTGGCTGAATCCACTGTCGGCACTGCCCA CAGATCAGGAGAGCCTGTGCATACAGAGAGCCTGCTAGAAAGCCCTGGGT CTAAGGAGAAGCAAGCTCCAGGGAGAACAAGTCAAGGAATGACATAAAAT CTTAATCCATGGAAGCCTAGCAGGAGGCTGGACATGGGCTGGAACTCCTG CTTCTCGTTATTAGGAGGAGCTGTTGCTCTCTCCTTTCATTCTCAGAACC AGAGGCAAAGACCCAGCCTCTTCTGCTCTTACTGGTGTGGAAATGCCAAC CTGCCTCGTATTAACTGCACCATCTACAAAATCTGAGCTCCAGCCAGTGC TGCTCTAGATTCATCTTTCTTTAGAGAGAATGAATTATTGTAGCCCCTAG CCCTTTCAATGAATTTCAGGGAATTGTGGAAATTCCTTTATTGGGATAAT TGTTTAAAAATAATACAGTTCGCGA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00438.hp2 others(102): Show HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03704.hp2 HG03831.hp2 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0016 a0002c0002 a0002c0005 a0002c0016	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0005t0001 a0002c0016t0001	a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0022 others(6): Show a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0002g0013 a0002c0002t0004g0007 a0002c0002t0007g0025 a0002c0002t0010g0007 a0002c0005t0001g0002 a0002c0016t0001g0002	105	424	0.2476	-1724	c.191 others(15): Show c.191-189_368-188del		HP	ENSG00000257017.10	transcript	ENST00000355906.10	protein_coding	4/7				INFO_REALIGN_3_PRIME	chr16	TogoVar

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