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(2): Show CTTTTTTTTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00438.hp2 HG00597.hp1 others(66): Show HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03654.hp2 HG03704.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18950.hp1 NA18965.hp2 NA18980.hp2 NA18981.hp2 NA18993.hp1 NA18998.hp1 NA19011.hp1 NA19063.hp2 NA19064.hp1 NA19084.hp1 NA19085.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0024 a0002c0022 a0003c0007 a0007c0023	a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 others(40): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0077 a0001c0001t0078 a0001c0002t0001 a0001c0002t0024 a0001c0002t0028 a0001c0002t0042 a0001c0003t0006 a0001c0003t0010 a0001c0003t0025 a0001c0003t0038 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0003t0046 a0001c0003t0110 a0001c0003t0111 a0001c0003t0115 a0001c0003t0116 a0001c0004t0008 a0001c0004t0025 a0001c0004t0026 a0001c0004t0094 a0001c0004t0118 a0001c0004t0123 a0001c0008t0098 a0001c0024t0027 a0002c0022t0008 a0003c0007t0009 a0007c0023t0113	a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0097 others(66): Show a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0216 a0001c0001t0002g0233 a0001c0001t0002g0257 a0001c0001t0015g0036 a0001c0001t0015g0164 a0001c0001t0015g0167 a0001c0001t0020g0296 a0001c0001t0029g0289 a0001c0001t0031g0039 a0001c0001t0031g0152 a0001c0001t0032g0042 a0001c0001t0032g0055 a0001c0001t0056g0046 a0001c0001t0058g0153 a0001c0001t0059g0314 a0001c0001t0060g0041 a0001c0001t0061g0284 a0001c0001t0062g0096 a0001c0001t0063g0154 a0001c0001t0064g0095 a0001c0001t0077g0057 a0001c0001t0078g0165 a0001c0002t0001g0011 a0001c0002t0001g0251 a0001c0002t0001g0283 a0001c0002t0024g0003 a0001c0002t0024g0004 a0001c0002t0024g0007 a0001c0002t0028g0006 a0001c0002t0028g0050 a0001c0002t0042g0014 a0001c0003t0006g0261 a0001c0003t0010g0017 a0001c0003t0010g0162 a0001c0003t0010g0198 a0001c0003t0010g0201 a0001c0003t0025g0139 a0001c0003t0025g0186 a0001c0003t0038g0134 a0001c0003t0043g0056 a0001c0003t0043g0204 a0001c0003t0044g0177 a0001c0003t0044g0182 a0001c0003t0045g0178 a0001c0003t0045g0179 a0001c0003t0046g0077 a0001c0003t0046g0155 a0001c0003t0110g0080 a0001c0003t0111g0136 a0001c0003t0115g0202 a0001c0003t0116g0200 a0001c0004t0008g0278 a0001c0004t0025g0213 a0001c0004t0026g0028 a0001c0004t0094g0212 a0001c0004t0118g0013 a0001c0004t0123g0061 a0001c0008t0098g0195 a0001c0024t0027g0033 a0002c0022t0008g0161 a0003c0007t0009g0248 a0007c0023t0113g0156	69	83	0.8313	9	c.623 others(21): Show c.623-11_623-3dupTTTTTTTTT		DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	5/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
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
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
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
DSP_chr6_7536671_7591714	7541915	C C	CA CA	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(109): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01884.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02273.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG02717.hp2 HG02965.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03942.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA19001.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA21309.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0013 a0014 a0015 a0017 a0019 a0026 a0034 a0036	a0001c0007 a0001c0011 a0001c0014 others(22): Show a0001c0007 a0001c0011 a0001c0014 a0001c0041 a0001c0044 a0002c0003 a0002c0018 a0002c0030 a0003c0009 a0003c0013 a0003c0028 a0003c0038 a0003c0040 a0005c0008 a0006c0042 a0007c0019 a0009c0029 a0013c0031 a0014c0039 a0015c0032 a0017c0037 a0019c0047 a0026c0045 a0034c0046 a0036c0043	a0001c0007t0001 a0001c0011t0001 a0001c0014t0001 others(24): Show a0001c0007t0001 a0001c0011t0001 a0001c0014t0001 a0001c0041t0001 a0001c0044t0001 a0002c0003t0001 a0002c0018t0001 a0002c0030t0001 a0003c0009t0002 a0003c0009t0003 a0003c0013t0002 a0003c0013t0003 a0003c0028t0002 a0003c0038t0002 a0003c0040t0002 a0005c0008t0001 a0006c0042t0001 a0007c0019t0001 a0009c0029t0001 a0013c0031t0002 a0014c0039t0001 a0015c0032t0003 a0017c0037t0002 a0019c0047t0001 a0026c0045t0002 a0034c0046t0001 a0036c0043t0001	a0001c0007t0001g0046 a0001c0007t0001g0049 a0001c0007t0001g0174 others(104): Show a0001c0007t0001g0046 a0001c0007t0001g0049 a0001c0007t0001g0174 a0001c0007t0001g0194 a0001c0007t0001g0217 a0001c0007t0001g0259 a0001c0007t0001g0263 a0001c0007t0001g0267 a0001c0007t0001g0270 a0001c0007t0001g0287 a0001c0007t0001g0315 a0001c0007t0001g0317 a0001c0011t0001g0173 a0001c0011t0001g0236 a0001c0011t0001g0250 a0001c0011t0001g0262 a0001c0011t0001g0264 a0001c0011t0001g0272 a0001c0011t0001g0307 a0001c0011t0001g0314 a0001c0014t0001g0249 a0001c0014t0001g0256 a0001c0014t0001g0258 a0001c0014t0001g0274 a0001c0014t0001g0276 a0001c0041t0001g0320 a0001c0044t0001g0045 a0002c0003t0001g0001 a0002c0003t0001g0004 a0002c0003t0001g0006 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0142 a0002c0003t0001g0178 a0002c0003t0001g0179 a0002c0003t0001g0184 a0002c0003t0001g0260 a0002c0003t0001g0268 a0002c0003t0001g0271 a0002c0003t0001g0284 a0002c0003t0001g0286 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0313 a0002c0003t0001g0318 a0002c0003t0001g0319 a0002c0003t0001g0321 a0002c0003t0001g0330 a0002c0003t0001g0371 a0002c0003t0001g0375 a0002c0003t0001g0376 a0002c0018t0001g0261 a0002c0018t0001g0266 a0002c0018t0001g0289 a0002c0018t0001g0306 a0002c0030t0001g0074 a0002c0030t0001g0298 a0003c0009t0002g0044 a0003c0009t0002g0183 a0003c0009t0002g0252 a0003c0009t0002g0279 a0003c0009t0002g0281 a0003c0009t0002g0283 a0003c0009t0002g0302 a0003c0009t0002g0308 a0003c0009t0003g0294 a0003c0013t0002g0168 a0003c0013t0002g0229 a0003c0013t0002g0269 a0003c0013t0002g0290 a0003c0013t0002g0334 a0003c0013t0003g0265 a0003c0028t0002g0257 a0003c0028t0002g0275 a0003c0038t0002g0071 a0003c0040t0002g0301 a0005c0008t0001g0014 a0005c0008t0001g0038 a0005c0008t0001g0293 a0005c0008t0001g0295 a0005c0008t0001g0296 a0005c0008t0001g0299 a0005c0008t0001g0303 a0005c0008t0001g0304 a0005c0008t0001g0305 a0005c0008t0001g0310 a0006c0042t0001g0251 a0007c0019t0001g0278 a0007c0019t0001g0297 a0007c0019t0001g0309 a0007c0019t0001g0377 a0009c0029t0001g0226 a0009c0029t0001g0227 a0013c0031t0002g0280 a0013c0031t0002g0282 a0014c0039t0001g0323 a0015c0032t0003g0247 a0015c0032t0003g0288 a0017c0037t0002g0316 a0019c0047t0001g0029 a0026c0045t0002g0359 a0034c0046t0001g0300 a0036c0043t0001g0273	112	394	0.2843	1	c.1du others(2): Show c.1dupA	p.Met others(3): Show p.Met1fs	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/24	247/9697	2/8616	1/2871	INFO_REALIGN_3_PRIME	chr6	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
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
FAM86B1_chr8_12177106_12199082	12186829	G G	C C	stop_gained stop_gained	HIGH	HG01070.hp2 HG01257.hp1 HG01070.hp2 HG01257.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0005 a0009c0011t0005	a0009c0011t0005g0026 a0009c0011t0005g0027 a0009c0011t0005g0026 a0009c0011t0005g0027	2	174	0.0115	0	c.245 others(3): Show c.245C>G	p.Ser others(3): Show p.Ser82*	FAM86B1	ENSG00000186523.15	transcript	ENST00000448228.7	protein_coding	4/7	257/2403	245/891	82/296		chr8	TogoVar
FCRL6_chr1_159797360_159821257	159815623	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00280.hp2 HG00639.hp1 others(14): Show HG00099.hp2 HG00280.hp2 HG00639.hp1 HG01109.hp1 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01934.hp2 HG02004.hp1 HG02698.hp1 HG03710.hp1 HG04115.hp1 NA18957.hp2 NA20129.hp1 NA20905.hp2	a0003 a0007 a0015 a0003 a0007 a0015	a0003c0003 a0007c0018 a0007c0020 others(1): Show a0003c0003 a0007c0018 a0007c0020 a0015c0010	a0003c0003t0002 a0007c0018t0002 a0007c0020t0002 others(1): Show a0003c0003t0002 a0007c0018t0002 a0007c0020t0002 a0015c0010t0002	a0003c0003t0002g0013 a0003c0003t0002g0022 a0003c0003t0002g0025 others(5): Show a0003c0003t0002g0013 a0003c0003t0002g0022 a0003c0003t0002g0025 a0003c0003t0002g0039 a0003c0003t0002g0062 a0007c0018t0002g0094 a0007c0020t0002g0078 a0015c0010t0002g0039	17	450	0.0378	0	c.126 others(4): Show c.1267C>T	p.Gln others(4): Show p.Gln423*	FCRL6	ENSG00000181036.14	transcript	ENST00000368106.4	protein_coding	10/10	1332/1966	1267/1305	423/434		chr1	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
FOXL2NB_chr3_138942217_138958990	138949615	CGGCATTC others(3): Show CGGCATTCGAA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00741.hp1 HG01256.hp1 others(3): Show HG00099.hp2 HG00741.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0001	6	394	0.0152	-10	c.200 others(17): Show c.200_209delATTCGAAGGC	p.His others(4): Show p.His67fs	FOXL2NB	ENSG00000206262.9	transcript	ENST00000383165.4	protein_coding	2/3	348/4094	200/528	67/175	INFO_REALIGN_3_PRIME	chr3	TogoVar
FUT2_chr19_48690971_48710951	48703417	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0032	91	392	0.2321	0	c.461 others(3): Show c.461G>A	p.Trp others(4): Show p.Trp154*	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	2/2	582/3116	461/1032	154/343		chr19	TogoVar
GAB4_chr22_16956936_17013222	16988159	C C	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00544.hp2 HG00558.hp2 others(144): Show HG00280.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG03098.hp1 HG03139.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19076.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp1 NA21309.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0008 a0002c0013 others(5): Show a0002c0002 a0002c0008 a0002c0013 a0002c0014 a0002c0017 a0002c0021 a0002c0022 a0005c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0008t0001 a0002c0013t0005 a0002c0014t0001 a0002c0014t0003 a0002c0017t0001 a0002c0021t0001 a0002c0022t0001 a0005c0011t0001	a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 others(74): Show a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0210 a0002c0002t0002g0171 a0002c0002t0002g0176 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0159 a0002c0002t0004g0184 a0002c0002t0004g0202 a0002c0002t0007g0040 a0002c0002t0007g0065 a0002c0002t0007g0168 a0002c0008t0001g0045 a0002c0008t0001g0084 a0002c0008t0001g0085 a0002c0013t0005g0067 a0002c0014t0001g0160 a0002c0014t0003g0167 a0002c0017t0001g0076 a0002c0021t0001g0177 a0002c0022t0001g0179 a0005c0011t0001g0077 a0005c0011t0001g0078	147	428	0.3435	0	c.487 others(3): Show c.487G>T	p.Gly others(4): Show p.Gly163*	GAB4	ENSG00000215568.9	transcript	ENST00000400588.5	protein_coding	3/10	595/2630	487/1725	163/574		chr22	TogoVar
GABRR3_chr3_97980102_98040315	98007903	A A	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00280.hp2 HG00323.hp2 HG00642.hp1 others(43): Show HG00280.hp2 HG00323.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01433.hp1 HG01516.hp2 HG01943.hp2 HG01952.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 NA18906.hp2 NA18942.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0020 a0002c0002t0026 a0002c0007t0002	a0002c0002t0001g0271 a0002c0002t0002g0002 a0002c0002t0002g0004 others(40): Show a0002c0002t0001g0271 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0042 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0003g0029 a0002c0002t0003g0044 a0002c0002t0003g0051 a0002c0002t0003g0057 a0002c0002t0003g0060 a0002c0002t0003g0166 a0002c0002t0006g0039 a0002c0002t0006g0059 a0002c0002t0007g0033 a0002c0002t0007g0035 a0002c0002t0007g0168 a0002c0002t0008g0226 a0002c0002t0008g0269 a0002c0002t0008g0272 a0002c0002t0008g0273 a0002c0002t0013g0037 a0002c0002t0013g0167 a0002c0002t0014g0046 a0002c0002t0014g0054 a0002c0002t0015g0330 a0002c0002t0018g0021 a0002c0002t0020g0061 a0002c0002t0026g0341 a0002c0007t0002g0065	46	380	0.1211	0	c.615 others(3): Show c.615T>A	p.Tyr others(4): Show p.Tyr205*	GABRR3	ENSG00000183185.10	transcript	ENST00000472788.6	protein_coding	7/10	743/3113	615/1404	205/467		chr3	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
GDPD4_chr11_77211558_77306686	77243743	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01891.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02486.hp2 HG02683.hp2 HG02698.hp2 HG02965.hp2 HG03490.hp2 HG03491.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18957.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20905.hp1	a0003 a0004 a0006 others(1): Show a0003 a0004 a0006 a0008	a0003c0003 a0004c0004 a0006c0006 others(1): Show a0003c0003 a0004c0004 a0006c0006 a0008c0010	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(6): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0007 a0003c0003t0009 a0003c0003t0012 a0004c0004t0006 a0006c0006t0006 a0008c0010t0003	a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 others(79): Show a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 a0003c0003t0002g0001 a0003c0003t0002g0002 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0029 a0003c0003t0002g0030 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0039 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0050 a0003c0003t0002g0051 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0067 a0003c0003t0002g0068 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0074 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0342 a0003c0003t0003g0009 a0003c0003t0007g0047 a0003c0003t0007g0048 a0003c0003t0007g0081 a0003c0003t0009g0036 a0003c0003t0009g0061 a0003c0003t0012g0069 a0004c0004t0006g0204 a0004c0004t0006g0205 a0004c0004t0006g0208 a0006c0006t0006g0206 a0006c0006t0006g0207 a0008c0010t0003g0086	84	348	0.2414	1	c.119 others(5): Show c.1191dupT	p.Ile others(5): Show p.Ile398fs	GDPD4	ENSG00000178795.10	transcript	ENST00000315938.5	protein_coding	13/17	1526/2617	1191/1563	397/520		chr11	TogoVar
GHR_chr5_42418439_42726878	42628209	TTTATATG others(2672): Show TTTATATGAGTGCACGATAGGGGGTGTTTTGGGCCAAAAGGTAGCTTTTT GGACATGAAAACGGAAATGCCTGTTCCCATTTAGGGCTGCAGGTCTTCAG GCTTGAGGGTGGGGCCTTTGCCCAGGAACTACCCTCTTCTACCCAGTGTT TCCCTGTCTCCTGTCCATATCACCAGTATTCACAGTCTCAAGGAGTCTTG AGAAAGTGTGCCCAAGGCCGTCAGATTCAGTTTGGTTCTGTATGTTTCAG GGAGGCAGGAATTACAGGCAAAGACATAAATCAGTACATGGAAGGTATAC ATTGGTTCACTCTGAAAAGGCAGGATGTCTTGAAGTGGGGACTTGCAGGT CATAGTTTGGTTCAGAGATTCTTTAATCTGCAGTTGGTTAAAGGAACAAA ACTGTACAGAAGCTTCGAGTTAGCAAAAAGAAATATTTAAATTAAGATAA GGATGCTATGTCAGAGTCAGCCACAAAATGACCTGTTTAGCAAGATTAAT GGCCTATAGGTGTGACTTAACCCTTGCCTTGCATGGCCTAAGGTCTTGTT TATAATTTAGTATCTTATTGCCCAAAGAGTCTATTTAGTCAGTCTTATGA TCTCTACTTTAACATTAATGCTGGTCACTTGTGCCTAAACTCCAAAGGGG AGGTATATCCAACCTGCCTTCCCATTGTGGCCAGGAACCTTTCTCTGGAG TCCCCTTGGCCAAGAAGGGGTCCATTCGGTTGGTTTGGGAAGCTGAGGAT TTTGTTTTTAGTTTACACAGGGTCATATCAGATTGTTTTGATGGGGATGA CTAATGGTTTTCTTCTCTTTCTGTTTCAGCCACAGCAGCTATCCTTAGCA GAGCACCCTGGAGTCTGCAAAGTGTTAATCCAGGCCTAAAGACAAGTAAG AATTTCAGTCCTTTTTCTTCCTTCAATGATATTTTCCATGTTTTAGTGTA ATTAAGCTACTATCCTTTCTCTATTTTATTTGGGATGGTAGTAACTGGAA TAGTGACTGAGTTGAAATTTTATAGGCAAGCAAAACATTTTTTAAGGATT TATTTTTTAACTTCTGATATAGTTTGGATGTTTGTCCCTTCCAAATCTCA TGTAATCCCCAATGTTGGAAGTGGAGACTGGGAGGAGATGTTTGGGTCAT GTGGGCAGATTCCTCATGAATGGTTTAGCACCCTCCTCTTTGTGCTGTCC TCACCATGAGTGAGTTCTCATGAGATCTGGTTGTTTAAAAGTGTGTGGCA CCTCCCCCTTCAATCTCTTGCTCCCACTCTCGCCCTGTGAGACACCTGCT CCGCTTCACCATGATTATAGGCTTCCTGAGGCTTTCACCAGAAGCAGATG CTAATACAGCCTGCAGAACTGTGAGCCATTTAAATCATTTTTCTTTATAA ATTACCCAGCCTCAGGTACTTTTTTATAGCAATGAAAACAAACTAATACA ACTTCTGTGCAAGGCTGCTTTTTTTTCTATTTTTTGCTTGTGCTTGGAGG TTAAGTAAGGCCAAATTAATGAAGGAGGAAAAAAGAGGAAATGATACATC ATGGATCAACAATTATTTATTGAATTTAGGAAACTGCCTCTTTTTATAAA TTCTTTTTAAAATTATTTTCATTATTATCTTGAAGTATTTATCTAAGGTT TACACTGGTAGAAAGTTAAACTTGTCTCTCCAACCAAATTGCCTTAAGCT TCAAAATTATGCCTTATTGTAAGCTCTTTCTTAACCTTAAAATGACTTTA CACATTCCCCGCTGGTCCTTTGACAATCTCCTCTTCAACCACAAGACAGA ACCCCACCATCAACTCTGTGGGGAAGCGTCTCCAAATTCTCTAGTCCTGA ACAACATTCTGCCTTCTCTGCTTCCATGGAACTTTGTCCTTTACAACATG ATAGCGTTTGCCTCCTGACATTTTAGTGTGTGTGTTAGCCCTGCATATAG AACTCACCAGATTGTGTGGACTGCATGAATGAATTAATTCTATTGAACTT TAAGGCAAAGCCTAAACTTTATGCTTCTTCTAAATCCCTTACATCTCCTA AAAAAATTCTGATCCATAGTAGTAGGTACTTGTTTAATTAAATTTTAGGG ATGGATATTTTTCATCAGTGGAAGTATATGCTAGAGTCCATATTATGCAA TAAGGGAAGGGAAGACAGTGTACCTAAATCAGTTAAGATATTGCTATTCT TGTTGTTATTCTAGAGTCACGAAATCATAATTTGAATTTTATGACTAAAT TGCAGAATTAATTTCCAATGTGAGATTTTAACATTATTTCCTTGGAGGTG ACCAAAAAGGAGAGCTGGTACTGTTTTTAACAACTGTCATTCAATTGTCA GTTGTGCCAGACCACAAATCCTTTATAGCCCTCCTGTTTAAGAAGCATCT GACATGTTAAGCTGCTCCCTAATTAACACAGAGGTTGTAAAAGAAGTGGC TGTTTGGTTCTGTTTGGGTTTCCCAGCCAGTATATTCCAAAGCCTTTTTT CACTCAACAGATGAGTTATGTGCTTTATATTCTGTAAGGAAATGAGAAGT AATCAGTTGAAAATGTGTTACTAATGGTACATGCTTCACATTGAAACCAT CCTCCTGACACAAACATAATACTTTGCCCTCCACTGTCCCCCAAAGTGGC AGTAGGATTTCTCTAAGTAATTTTCTTTAC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00280.hp2 HG00423.hp2 HG00621.hp2 others(86): Show HG00280.hp2 HG00423.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18967.hp1 NA18995.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 others(2): Show a0001c0001 a0001c0004 a0001c0008 a0001c0009 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0004t0011 a0001c0004t0012 a0001c0004t0016 a0001c0004t0017 a0001c0004t0018 a0001c0004t0029 a0001c0004t0030 a0001c0004t0031 a0001c0004t0032 a0001c0004t0033 a0001c0008t0003 a0001c0008t0007 a0001c0009t0001 a0001c0009t0006 a0001c0012t0002	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 others(86): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0063 a0001c0001t0002g0086 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0004g0051 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0129 a0001c0001t0004g0157 a0001c0001t0004g0171 a0001c0001t0004g0180 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0209 a0001c0001t0005g0025 a0001c0001t0005g0046 a0001c0001t0005g0067 a0001c0001t0005g0077 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0082 a0001c0001t0005g0098 a0001c0001t0005g0101 a0001c0001t0005g0131 a0001c0001t0005g0183 a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0013g0065 a0001c0001t0013g0066 a0001c0001t0014g0060 a0001c0001t0014g0087 a0001c0001t0014g0104 a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0001t0015g0141 a0001c0001t0020g0045 a0001c0001t0020g0058 a0001c0001t0023g0099 a0001c0001t0028g0108 a0001c0004t0011g0001 a0001c0004t0011g0002 a0001c0004t0011g0139 a0001c0004t0011g0163 a0001c0004t0012g0007 a0001c0004t0012g0010 a0001c0004t0012g0130 a0001c0004t0012g0177 a0001c0004t0016g0023 a0001c0004t0016g0027 a0001c0004t0016g0028 a0001c0004t0017g0015 a0001c0004t0017g0055 a0001c0004t0018g0152 a0001c0004t0029g0118 a0001c0004t0030g0149 a0001c0004t0031g0117 a0001c0004t0032g0004 a0001c0004t0033g0006 a0001c0008t0003g0150 a0001c0008t0003g0162 a0001c0008t0007g0083 a0001c0008t0007g0084 a0001c0009t0001g0112 a0001c0009t0006g0081 a0001c0012t0002g0115	89	208	0.4279	-2679	c.71- others(15): Show c.71-815_136+1798del		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/10				INFO_REALIGN_3_PRIME	chr5	TogoVar
GJA10_chr6_89889469_89901120	89895945	C C	T T	stop_gained stop_gained	HIGH	HG01257.hp2 HG02293.hp2 HG01257.hp2 HG02293.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0000 a0002c0003t0002g0000	2	384	0.0052	0	c.147 others(4): Show c.1477C>T	p.Gln others(4): Show p.Gln493*	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding	1/1	1477/1652	1477/1632	493/543		chr6	TogoVar
GLT6D1_chr9_135618648_135644540	135624500	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00323.hp1 HG00438.hp2 others(84): Show HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp2 HG02451.hp1 HG02523.hp1 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19078.hp2 NA19085.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp1	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0010	a0002c0003 a0002c0004 a0002c0007 others(5): Show a0002c0003 a0002c0004 a0002c0007 a0002c0010 a0002c0014 a0005c0013 a0006c0012 a0010c0021	a0002c0003t0001 a0002c0004t0003 a0002c0004t0007 others(7): Show a0002c0003t0001 a0002c0004t0003 a0002c0004t0007 a0002c0007t0003 a0002c0010t0003 a0002c0010t0006 a0002c0014t0003 a0005c0013t0002 a0006c0012t0001 a0010c0021t0003	a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0032 others(50): Show a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0041 a0002c0003t0001g0050 a0002c0003t0001g0056 a0002c0003t0001g0067 a0002c0003t0001g0080 a0002c0003t0001g0091 a0002c0003t0001g0094 a0002c0003t0001g0097 a0002c0003t0001g0100 a0002c0003t0001g0106 a0002c0003t0001g0147 a0002c0003t0001g0163 a0002c0003t0001g0176 a0002c0003t0001g0181 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0230 a0002c0003t0001g0232 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0004t0003g0010 a0002c0004t0003g0017 a0002c0004t0003g0021 a0002c0004t0003g0064 a0002c0004t0003g0068 a0002c0004t0003g0081 a0002c0004t0003g0093 a0002c0004t0003g0101 a0002c0004t0003g0105 a0002c0004t0003g0200 a0002c0004t0003g0219 a0002c0004t0003g0222 a0002c0004t0003g0228 a0002c0004t0007g0102 a0002c0004t0007g0103 a0002c0007t0003g0018 a0002c0007t0003g0047 a0002c0007t0003g0248 a0002c0010t0003g0165 a0002c0010t0003g0189 a0002c0010t0003g0210 a0002c0010t0006g0180 a0002c0010t0006g0211 a0002c0014t0003g0201 a0005c0013t0002g0096 a0005c0013t0002g0107 a0006c0012t0001g0084 a0006c0012t0001g0146 a0010c0021t0003g0224	87	434	0.2005	-1	c.427 others(4): Show c.427delT	p.Trp others(5): Show p.Trp143fs	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding	5/5	681/1534	427/831	143/276		chr9	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
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	23440076	C C	CCTGGCCC others(409): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGGCCCCGCATCTTCTCCTCCTGGTCCCGCATCTTCTCCTCCTGCTCCC ATATCTTCTCCTGCTCCTGCATCTTCTCGTGTTCCCACAGCTTCTCCTTC TGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG01257.hp1 HG01952.hp1 HG01981.hp1 others(1): Show HG01257.hp1 HG01952.hp1 HG01981.hp1 HG02004.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0013 a0003c0015t0001g0013	4	95	0.0421	416	c.239 others(425): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGCCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTG GGGCCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGCAG 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	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
GOLGA6L6_chr15_20526856_20546800	20535014	C C	A A	stop_gained stop_gained	HIGH	HG00408.hp1 HG00609.hp1 HG00735.hp1 others(91): Show HG00408.hp1 HG00609.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG02071.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02523.hp1 HG02602.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp1 NA19085.hp1 NA19090.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0007 a0010 others(10): Show a0001 a0007 a0010 a0011 a0016 a0017 a0019 a0020 a0024 a0030 a0034 a0035 a0036	a0001c0001 a0001c0010 a0001c0031 others(19): Show a0001c0001 a0001c0010 a0001c0031 a0001c0032 a0001c0034 a0001c0043 a0007c0006 a0007c0047 a0010c0014 a0010c0015 a0011c0012 a0011c0026 a0016c0017 a0017c0036 a0017c0037 a0019c0021 a0020c0035 a0024c0051 a0030c0033 a0034c0041 a0035c0042 a0036c0038	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(27): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0010t0001 a0001c0031t0001 a0001c0032t0001 a0001c0034t0001 a0001c0043t0001 a0007c0006t0001 a0007c0006t0004 a0007c0006t0024 a0007c0047t0013 a0010c0014t0007 a0010c0015t0009 a0011c0012t0007 a0011c0026t0007 a0016c0017t0004 a0017c0036t0001 a0017c0037t0001 a0019c0021t0007 a0020c0035t0018 a0024c0051t0004 a0030c0033t0001 a0034c0041t0001 a0035c0042t0001 a0036c0038t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0004g0006 a0001c0001t0004g0062 a0001c0001t0004g0086 a0001c0001t0012g0072 a0001c0001t0015g0070 a0001c0001t0016g0071 a0001c0001t0017g0087 a0001c0001t0020g0074 a0001c0010t0001g0010 a0001c0031t0001g0068 a0001c0032t0001g0073 a0001c0034t0001g0076 a0001c0043t0001g0081 a0007c0006t0001g0107 a0007c0006t0004g0027 a0007c0006t0004g0105 a0007c0006t0004g0109 a0007c0006t0004g0116 a0007c0006t0024g0108 a0007c0047t0013g0115 a0010c0014t0007g0013 a0010c0015t0009g0037 a0010c0015t0009g0038 a0011c0012t0007g0012 a0011c0026t0007g0051 a0016c0017t0004g0083 a0016c0017t0004g0084 a0017c0036t0001g0066 a0017c0037t0001g0067 a0019c0021t0007g0033 a0020c0035t0018g0082 a0024c0051t0004g0117 a0030c0033t0001g0060 a0034c0041t0001g0079 a0035c0042t0001g0080 a0036c0038t0001g0063	94	212	0.4434	0	c.142 others(4): Show c.1420G>T	p.Glu others(4): Show p.Glu474*	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	8/9	1511/4013	1420/2175	474/724		chr15	TogoVar
GOLGA6L6_chr15_20526856_20546800	20535092	C C	A A	stop_gained stop_gained	HIGH	HG01071.hp2 HG01255.hp1 HG01257.hp2 others(7): Show HG01071.hp2 HG01255.hp1 HG01257.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG02257.hp2 HG03927.hp2	a0010 a0011 a0019 a0010 a0011 a0019	a0010c0014 a0010c0015 a0011c0012 others(2): Show a0010c0014 a0010c0015 a0011c0012 a0011c0026 a0019c0021	a0010c0014t0007 a0010c0015t0009 a0011c0012t0007 others(2): Show a0010c0014t0007 a0010c0015t0009 a0011c0012t0007 a0011c0026t0007 a0019c0021t0007	a0010c0014t0007g0013 a0010c0015t0009g0037 a0010c0015t0009g0038 others(3): Show a0010c0014t0007g0013 a0010c0015t0009g0037 a0010c0015t0009g0038 a0011c0012t0007g0012 a0011c0026t0007g0051 a0019c0021t0007g0033	10	212	0.0472	0	c.134 others(4): Show c.1342G>T	p.Glu others(4): Show p.Glu448*	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	8/9	1433/4013	1342/2175	448/724		chr15	TogoVar
GOLGA6L6_chr15_20526856_20546800	20535305	G G	A A	stop_gained stop_gained	HIGH	HG01106.hp1 HG01257.hp1 HG01928.hp1 others(1): Show HG01106.hp1 HG01257.hp1 HG01928.hp1 HG04204.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0010 a0001c0010t0001g0010	4	212	0.0189	0	c.112 others(4): Show c.1129C>T	p.Gln others(4): Show p.Gln377*	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	8/9	1220/4013	1129/2175	377/724		chr15	TogoVar
GPR135_chr14_59455759_59470380	59464198	G G	GCA GCA	frameshift_variant frameshift_variant	HIGH	HG01257.hp1 HG01258.hp1 HG01433.hp1 others(13): Show HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01891.hp2 HG02280.hp1 HG02559.hp1 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG03130.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0016 a0003c0004 a0003c0016	a0003c0004t0001 a0003c0016t0001 a0003c0004t0001 a0003c0016t0001	a0003c0004t0001g0000 a0003c0016t0001g0000 a0003c0004t0001g0000 a0003c0016t0001g0000	16	366	0.0437	2	c.102 others(11): Show c.1027_1028dupTG	p.Trp others(5): Show p.Trp344fs	GPR135	ENSG00000181619.12	transcript	ENST00000395116.2	protein_coding	1/1	1182/4622	1028/1485	343/494		chr14	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
GRIN3B_chr19_995419_1014732	1004897	G G	GCGTT GCGTT	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG00741.hp2 HG01069.hp1 others(55): Show HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02056.hp2 HG02135.hp1 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02895.hp1 HG02965.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18944.hp1 NA18947.hp1 NA18953.hp2 NA18982.hp2 NA18985.hp2 NA18990.hp2 NA18993.hp1 NA19030.hp1 NA19065.hp1 NA19067.hp1 NA19089.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0003 a0010 a0024 others(6): Show a0003 a0010 a0024 a0033 a0074 a0087 a0092 a0102 a0108	a0003c0005 a0003c0025 a0003c0026 others(21): Show a0003c0005 a0003c0025 a0003c0026 a0003c0027 a0003c0028 a0003c0038 a0003c0039 a0003c0068 a0003c0069 a0003c0070 a0003c0071 a0003c0072 a0003c0073 a0010c0023 a0010c0054 a0010c0057 a0010c0142 a0024c0033 a0033c0050 a0074c0139 a0087c0091 a0092c0060 a0102c0100 a0108c0080	a0003c0005t0002 a0003c0025t0002 a0003c0026t0002 others(21): Show a0003c0005t0002 a0003c0025t0002 a0003c0026t0002 a0003c0027t0002 a0003c0028t0002 a0003c0038t0002 a0003c0039t0002 a0003c0068t0002 a0003c0069t0002 a0003c0070t0002 a0003c0071t0002 a0003c0072t0002 a0003c0073t0002 a0010c0023t0001 a0010c0054t0001 a0010c0057t0002 a0010c0142t0003 a0024c0033t0002 a0033c0050t0001 a0074c0139t0003 a0087c0091t0001 a0092c0060t0002 a0102c0100t0001 a0108c0080t0004	a0003c0005t0002g0006 a0003c0005t0002g0016 a0003c0005t0002g0028 others(35): Show a0003c0005t0002g0006 a0003c0005t0002g0016 a0003c0005t0002g0028 a0003c0005t0002g0066 a0003c0005t0002g0073 a0003c0005t0002g0085 a0003c0005t0002g0086 a0003c0005t0002g0090 a0003c0025t0002g0006 a0003c0025t0002g0028 a0003c0026t0002g0006 a0003c0026t0002g0089 a0003c0026t0002g0097 a0003c0027t0002g0006 a0003c0027t0002g0028 a0003c0028t0002g0012 a0003c0028t0002g0092 a0003c0038t0002g0012 a0003c0039t0002g0046 a0003c0068t0002g0084 a0003c0069t0002g0016 a0003c0070t0002g0091 a0003c0071t0002g0012 a0003c0072t0002g0088 a0003c0073t0002g0087 a0010c0023t0001g0034 a0010c0023t0001g0141 a0010c0054t0001g0056 a0010c0057t0002g0067 a0010c0142t0003g0160 a0024c0033t0002g0029 a0033c0050t0001g0111 a0033c0050t0001g0112 a0074c0139t0003g0162 a0087c0091t0001g0191 a0092c0060t0002g0006 a0102c0100t0001g0166 a0108c0080t0004g0083	58	444	0.1306	4	c.139 others(13): Show c.1396_1397insCGTT	p.Gly others(5): Show p.Gly466fs	GRIN3B	ENSG00000116032.5	transcript	ENST00000234389.3	protein_coding	3/9	1416/3281	1397/3132	466/1043		chr19	TogoVar
GSDMB_chr17_39899595_39923635	39908216	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02559.hp1 HG02818.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19078.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0014 others(47): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0137 a0002c0002t0001g0151 a0002c0002t0004g0152 a0002c0002t0005g0153	125	398	0.3141	0	c.662 others(5): Show c.662-2A>G		GSDMB	ENSG00000073605.19	transcript	ENST00000418519.6	protein_coding	5/10					chr17	TogoVar
H2BW2_chrX_104034956_104047454	104040193	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG03041.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0006 a0005c0008 a0002c0002 a0002c0006 a0005c0008	a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0005c0008t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0012 others(4): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0002g0001 a0002c0006t0001g0001 a0005c0008t0001g0001	112	330	0.3394	0	c.199 others(3): Show c.199C>T	p.Gln others(3): Show p.Gln67*	H2BW2	ENSG00000101812.15	transcript	ENST00000675318.3	protein_coding	1/4	238/870	199/447	67/148		chrX	TogoVar
H6PD_chr1_9229774_9276337	9244919	CCCCAGGC others(1): Show CCCCAGGCA	C C	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00140.hp2 HG00642.hp1 HG01255.hp1 others(37): Show HG00140.hp2 HG00642.hp1 HG01255.hp1 HG01257.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG02165.hp1 HG02258.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18962.hp2 NA18973.hp2 NA18979.hp2 NA19012.hp1 NA19079.hp2 NA19081.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0018 others(1): Show a0001 a0002 a0018 a0023	a0001c0001 a0001c0004 a0001c0020 others(4): Show a0001c0001 a0001c0004 a0001c0020 a0002c0005 a0002c0006 a0018c0041 a0023c0049	a0001c0001t0002 a0001c0001t0003 a0001c0004t0005 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0004t0005 a0001c0004t0042 a0001c0004t0112 a0001c0004t0113 a0001c0004t0114 a0001c0020t0094 a0002c0005t0002 a0002c0005t0003 a0002c0005t0100 a0002c0006t0005 a0018c0041t0002 a0023c0049t0096	a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0053 others(26): Show a0001c0001t0002g0001 a0001c0001t0002g0026 a0001c0001t0002g0053 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0003g0052 a0001c0001t0003g0129 a0001c0004t0005g0001 a0001c0004t0005g0025 a0001c0004t0005g0228 a0001c0004t0005g0230 a0001c0004t0005g0231 a0001c0004t0005g0232 a0001c0004t0005g0233 a0001c0004t0005g0235 a0001c0004t0042g0025 a0001c0004t0112g0051 a0001c0004t0113g0001 a0001c0004t0114g0001 a0001c0020t0094g0001 a0002c0005t0002g0001 a0002c0005t0002g0026 a0002c0005t0002g0051 a0002c0005t0002g0237 a0002c0005t0003g0052 a0002c0005t0100g0001 a0002c0006t0005g0001 a0018c0041t0002g0026 a0023c0049t0096g0229	40	402	0.0995	-8	c.-7_ others(12): Show c.-7_1delCCCAGGCA	p.Met others(3): Show p.Met1fs	H6PD	ENSG00000049239.13	transcript	ENST00000377403.7	protein_coding	2/5	297/9147	1/2376	1/791	INFO_REALIGN_3_PRIME	chr1	TogoVar
HLA-DQB1_chr6_32654467_32671657	32664861	C C	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG00741.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19055.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0005 a0009 a0010 others(2): Show a0005 a0009 a0010 a0011 a0012	a0005c0006 a0005c0019 a0009c0010 others(3): Show a0005c0006 a0005c0019 a0009c0010 a0010c0009 a0011c0011 a0012c0013	a0005c0006t0004 a0005c0019t0004 a0009c0010t0001 others(6): Show a0005c0006t0004 a0005c0019t0004 a0009c0010t0001 a0010c0009t0001 a0010c0009t0010 a0010c0009t0016 a0010c0009t0017 a0011c0011t0009 a0012c0013t0011	a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 others(15): Show a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 a0005c0006t0004g0026 a0005c0006t0004g0053 a0005c0019t0004g0055 a0009c0010t0001g0009 a0010c0009t0001g0030 a0010c0009t0010g0018 a0010c0009t0010g0023 a0010c0009t0010g0027 a0010c0009t0016g0037 a0010c0009t0017g0038 a0011c0011t0009g0011 a0011c0011t0009g0029 a0011c0011t0009g0052 a0012c0013t0011g0013 a0012c0013t0011g0054	102	400	0.2550	0	c.316 others(3): Show c.316G>T	p.Glu others(4): Show p.Glu106*	HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding	2/5	366/1605	316/786	106/261		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584364	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(20): Show a0002 a0003 a0005 a0006 a0007 a0010 a0012 a0013 a0014 a0016 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0026 a0028 a0029 a0030 a0031 a0032	a0002c0002 a0003c0003 a0005c0008 others(21): Show a0002c0002 a0003c0003 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0010c0013 a0012c0012 a0013c0015 a0014c0016 a0016c0018 a0018c0019 a0019c0020 a0020c0023 a0021c0024 a0023c0022 a0024c0027 a0025c0026 a0026c0031 a0028c0032 a0029c0034 a0030c0035 a0031c0030 a0032c0033	a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 others(22): Show a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0010c0013t0011 a0012c0012t0003 a0013c0015t0008 a0014c0016t0010 a0014c0016t0012 a0016c0018t0008 a0018c0019t0003 a0019c0020t0010 a0020c0023t0006 a0021c0024t0010 a0023c0022t0012 a0024c0027t0006 a0025c0026t0006 a0026c0031t0003 a0028c0032t0003 a0029c0034t0006 a0030c0035t0009 a0031c0030t0011 a0032c0033t0011	a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 others(53): Show a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 a0002c0002t0005g0058 a0002c0002t0005g0059 a0003c0003t0002g0008 a0003c0003t0002g0015 a0003c0003t0002g0023 a0003c0003t0002g0028 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0005c0008t0006g0016 a0005c0008t0006g0029 a0005c0008t0006g0030 a0005c0008t0006g0049 a0005c0010t0009g0024 a0005c0010t0009g0032 a0005c0010t0009g0052 a0005c0010t0009g0053 a0005c0010t0009g0056 a0006c0005t0002g0007 a0006c0005t0002g0014 a0006c0005t0002g0036 a0006c0005t0002g0040 a0007c0006t0003g0004 a0007c0006t0003g0046 a0007c0006t0003g0048 a0010c0013t0011g0020 a0010c0013t0011g0061 a0010c0013t0011g0062 a0012c0012t0003g0010 a0012c0012t0003g0057 a0013c0015t0008g0012 a0014c0016t0010g0060 a0014c0016t0012g0018 a0016c0018t0008g0027 a0016c0018t0008g0038 a0016c0018t0008g0039 a0018c0019t0003g0022 a0018c0019t0003g0047 a0019c0020t0010g0019 a0020c0023t0006g0034 a0020c0023t0006g0054 a0021c0024t0010g0025 a0023c0022t0012g0026 a0023c0022t0012g0037 a0024c0027t0006g0031 a0025c0026t0006g0033 a0026c0031t0003g0045 a0028c0032t0003g0055 a0029c0034t0006g0050 a0030c0035t0009g0051 a0031c0030t0011g0064 a0032c0033t0011g0063	131	203	0.6453	0	c.115 others(3): Show c.115C>T	p.Gln others(3): Show p.Gln39*	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	221/1223	115/801	39/266		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584366	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(21): Show a0002 a0003 a0005 a0006 a0007 a0010 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0026 a0028 a0029 a0030 a0031 a0032	a0002c0002 a0003c0003 a0005c0008 others(22): Show a0002c0002 a0003c0003 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0010c0013 a0012c0012 a0013c0015 a0014c0016 a0015c0014 a0016c0018 a0018c0019 a0019c0020 a0020c0023 a0021c0024 a0023c0022 a0024c0027 a0025c0026 a0026c0031 a0028c0032 a0029c0034 a0030c0035 a0031c0030 a0032c0033	a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 others(23): Show a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0010c0013t0011 a0012c0012t0003 a0013c0015t0008 a0014c0016t0010 a0014c0016t0012 a0015c0014t0013 a0016c0018t0008 a0018c0019t0003 a0019c0020t0010 a0020c0023t0006 a0021c0024t0010 a0023c0022t0012 a0024c0027t0006 a0025c0026t0006 a0026c0031t0003 a0028c0032t0003 a0029c0034t0006 a0030c0035t0009 a0031c0030t0011 a0032c0033t0011	a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 others(54): Show a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 a0002c0002t0005g0058 a0002c0002t0005g0059 a0003c0003t0002g0008 a0003c0003t0002g0015 a0003c0003t0002g0023 a0003c0003t0002g0028 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0005c0008t0006g0016 a0005c0008t0006g0029 a0005c0008t0006g0030 a0005c0008t0006g0049 a0005c0010t0009g0024 a0005c0010t0009g0032 a0005c0010t0009g0052 a0005c0010t0009g0053 a0005c0010t0009g0056 a0006c0005t0002g0007 a0006c0005t0002g0014 a0006c0005t0002g0036 a0006c0005t0002g0040 a0007c0006t0003g0004 a0007c0006t0003g0046 a0007c0006t0003g0048 a0010c0013t0011g0020 a0010c0013t0011g0061 a0010c0013t0011g0062 a0012c0012t0003g0010 a0012c0012t0003g0057 a0013c0015t0008g0012 a0014c0016t0010g0060 a0014c0016t0012g0018 a0015c0014t0013g0013 a0016c0018t0008g0027 a0016c0018t0008g0038 a0016c0018t0008g0039 a0018c0019t0003g0022 a0018c0019t0003g0047 a0019c0020t0010g0019 a0020c0023t0006g0034 a0020c0023t0006g0054 a0021c0024t0010g0025 a0023c0022t0012g0026 a0023c0022t0012g0037 a0024c0027t0006g0031 a0025c0026t0006g0033 a0026c0031t0003g0045 a0028c0032t0003g0055 a0029c0034t0006g0050 a0030c0035t0009g0051 a0031c0030t0011g0064 a0032c0033t0011g0063	136	208	0.6538	0	c.113 others(3): Show c.113G>A	p.Trp others(3): Show p.Trp38*	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	219/1223	113/801	38/266		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
HRNR_chr1_152207076_152229193	152223252	AT AT	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): 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 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.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 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 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 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 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 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.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 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 a0001	a0001c0001 a0001c0002 a0001c0003 others(158): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0072 a0001c0073 a0001c0074 a0001c0075 a0001c0076 a0001c0077 a0001c0078 a0001c0079 a0001c0080 a0001c0081 a0001c0082 a0001c0083 a0001c0084 a0001c0085 a0001c0086 a0001c0087 a0001c0088 a0001c0089 a0001c0090 a0001c0091 a0001c0092 a0001c0093 a0001c0094 a0001c0095 a0001c0096 a0001c0097 a0001c0098 a0001c0099 a0001c0100 a0001c0101 a0001c0102 a0001c0103 a0001c0104 a0001c0105 a0001c0106 a0001c0107 a0001c0108 a0001c0109 a0001c0110 a0001c0111 a0001c0112 a0001c0113 a0001c0114 a0001c0115 a0001c0116 a0001c0117 a0001c0118 a0001c0119 a0001c0120 a0001c0121 a0001c0122 a0001c0123 a0001c0124 a0001c0125 a0001c0126 a0001c0127 a0001c0128 a0001c0129 a0001c0130 a0001c0131 a0001c0132 a0001c0133 a0001c0134 a0001c0135 a0001c0136 a0001c0137 a0001c0138 a0001c0139 a0001c0140 a0001c0141 a0001c0142 a0001c0143 a0001c0144 a0001c0145 a0001c0146 a0001c0147 a0001c0148 a0001c0149 a0001c0150 a0001c0151 a0001c0152 a0001c0153 a0001c0154 a0001c0155 a0001c0156 a0001c0157 a0001c0158 a0001c0159 a0001c0160 a0001c0161 a0001c0162 a0001c0163 a0001c0164 a0001c0165 a0001c0166 a0001c0167 a0001c0168 a0001c0169 a0001c0170 a0001c0171 a0001c0172 a0001c0173 a0001c0174 a0001c0175 a0001c0176 a0001c0177 a0001c0178 a0001c0179	a0001c0001t0002 a0001c0002t0002 a0001c0002t0012 others(160): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0012 a0001c0003t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0006 a0001c0006t0001 a0001c0007t0001 a0001c0010t0001 a0001c0011t0002 a0001c0013t0001 a0001c0014t0001 a0001c0015t0007 a0001c0016t0001 a0001c0017t0005 a0001c0018t0008 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0004 a0001c0027t0002 a0001c0028t0005 a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0003 a0001c0040t0004 a0001c0041t0002 a0001c0042t0002 a0001c0043t0002 a0001c0044t0002 a0001c0045t0002 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0061t0001 a0001c0062t0001 a0001c0063t0001 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0001c0067t0001 a0001c0068t0001 a0001c0069t0001 a0001c0070t0001 a0001c0072t0001 a0001c0073t0001 a0001c0074t0001 a0001c0075t0001 a0001c0076t0001 a0001c0077t0001 a0001c0078t0001 a0001c0079t0001 a0001c0080t0001 a0001c0081t0001 a0001c0082t0001 a0001c0083t0001 a0001c0084t0017 a0001c0085t0001 a0001c0086t0001 a0001c0087t0001 a0001c0088t0016 a0001c0089t0001 a0001c0090t0001 a0001c0091t0014 a0001c0092t0006 a0001c0093t0001 a0001c0094t0011 a0001c0095t0001 a0001c0096t0001 a0001c0097t0001 a0001c0098t0001 a0001c0099t0001 a0001c0100t0001 a0001c0101t0001 a0001c0102t0001 a0001c0103t0001 a0001c0104t0006 a0001c0105t0001 a0001c0106t0001 a0001c0107t0001 a0001c0108t0001 a0001c0109t0001 a0001c0110t0001 a0001c0111t0001 a0001c0112t0001 a0001c0113t0001 a0001c0114t0001 a0001c0115t0001 a0001c0116t0001 a0001c0117t0001 a0001c0118t0001 a0001c0119t0001 a0001c0120t0001 a0001c0121t0001 a0001c0122t0001 a0001c0123t0001 a0001c0124t0001 a0001c0125t0001 a0001c0126t0001 a0001c0127t0001 a0001c0128t0001 a0001c0129t0001 a0001c0130t0001 a0001c0131t0001 a0001c0132t0001 a0001c0133t0001 a0001c0134t0010 a0001c0135t0001 a0001c0136t0001 a0001c0137t0001 a0001c0138t0010 a0001c0139t0005 a0001c0140t0001 a0001c0141t0001 a0001c0142t0001 a0001c0143t0001 a0001c0144t0001 a0001c0145t0001 a0001c0146t0001 a0001c0147t0001 a0001c0148t0001 a0001c0149t0001 a0001c0150t0001 a0001c0151t0003 a0001c0152t0003 a0001c0153t0004 a0001c0154t0001 a0001c0155t0002 a0001c0156t0002 a0001c0157t0002 a0001c0158t0002 a0001c0159t0013 a0001c0160t0002 a0001c0161t0002 a0001c0162t0002 a0001c0163t0002 a0001c0164t0002 a0001c0165t0002 a0001c0166t0009 a0001c0167t0002 a0001c0168t0002 a0001c0169t0018 a0001c0170t0002 a0001c0171t0002 a0001c0172t0002 a0001c0173t0002 a0001c0174t0002 a0001c0175t0002 a0001c0176t0005 a0001c0177t0005 a0001c0178t0008 a0001c0179t0005	a0001c0001t0002g0001 a0001c0001t0002g0040 a0001c0001t0002g0189 others(169): Show a0001c0001t0002g0001 a0001c0001t0002g0040 a0001c0001t0002g0189 a0001c0002t0002g0002 a0001c0002t0002g0031 a0001c0002t0002g0034 a0001c0002t0002g0161 a0001c0002t0002g0190 a0001c0002t0012g0176 a0001c0003t0001g0003 a0001c0004t0003g0004 a0001c0005t0001g0010 a0001c0005t0006g0016 a0001c0006t0001g0006 a0001c0006t0001g0030 a0001c0007t0001g0005 a0001c0010t0001g0007 a0001c0011t0002g0014 a0001c0011t0002g0188 a0001c0013t0001g0011 a0001c0014t0001g0013 a0001c0015t0007g0012 a0001c0016t0001g0015 a0001c0017t0005g0026 a0001c0017t0005g0151 a0001c0018t0008g0018 a0001c0020t0001g0020 a0001c0021t0001g0021 a0001c0022t0001g0022 a0001c0023t0001g0023 a0001c0024t0001g0024 a0001c0025t0001g0019 a0001c0026t0004g0028 a0001c0027t0002g0029 a0001c0028t0005g0027 a0001c0030t0001g0035 a0001c0031t0001g0036 a0001c0032t0001g0037 a0001c0033t0001g0038 a0001c0034t0001g0039 a0001c0035t0001g0041 a0001c0036t0001g0042 a0001c0037t0001g0032 a0001c0038t0001g0033 a0001c0039t0003g0045 a0001c0040t0004g0044 a0001c0041t0002g0046 a0001c0042t0002g0047 a0001c0043t0002g0048 a0001c0044t0002g0049 a0001c0045t0002g0050 a0001c0058t0001g0114 a0001c0059t0001g0115 a0001c0060t0001g0116 a0001c0061t0001g0117 a0001c0062t0001g0067 a0001c0063t0001g0068 a0001c0064t0001g0069 a0001c0065t0001g0070 a0001c0066t0001g0071 a0001c0067t0001g0072 a0001c0068t0001g0073 a0001c0069t0001g0052 a0001c0070t0001g0074 a0001c0072t0001g0076 a0001c0073t0001g0077 a0001c0074t0001g0078 a0001c0075t0001g0079 a0001c0076t0001g0080 a0001c0077t0001g0081 a0001c0078t0001g0082 a0001c0079t0001g0083 a0001c0080t0001g0084 a0001c0081t0001g0085 a0001c0082t0001g0086 a0001c0083t0001g0087 a0001c0084t0017g0088 a0001c0085t0001g0089 a0001c0086t0001g0090 a0001c0087t0001g0091 a0001c0088t0016g0092 a0001c0089t0001g0093 a0001c0090t0001g0094 a0001c0091t0014g0095 a0001c0092t0006g0096 a0001c0093t0001g0097 a0001c0094t0011g0098 a0001c0095t0001g0099 a0001c0096t0001g0100 a0001c0097t0001g0101 a0001c0098t0001g0102 a0001c0099t0001g0103 a0001c0100t0001g0104 a0001c0101t0001g0105 a0001c0102t0001g0106 a0001c0103t0001g0107 a0001c0104t0006g0108 a0001c0105t0001g0109 a0001c0106t0001g0110 a0001c0107t0001g0160 a0001c0108t0001g0111 a0001c0109t0001g0112 a0001c0110t0001g0118 a0001c0111t0001g0119 a0001c0112t0001g0120 a0001c0113t0001g0121 a0001c0114t0001g0122 a0001c0115t0001g0123 a0001c0116t0001g0124 a0001c0117t0001g0125 a0001c0118t0001g0126 a0001c0119t0001g0127 a0001c0120t0001g0128 a0001c0121t0001g0129 a0001c0122t0001g0130 a0001c0123t0001g0131 a0001c0124t0001g0132 a0001c0125t0001g0133 a0001c0126t0001g0134 a0001c0127t0001g0135 a0001c0128t0001g0136 a0001c0129t0001g0137 a0001c0130t0001g0138 a0001c0131t0001g0139 a0001c0132t0001g0140 a0001c0133t0001g0141 a0001c0134t0010g0142 a0001c0135t0001g0143 a0001c0136t0001g0144 a0001c0137t0001g0145 a0001c0138t0010g0146 a0001c0139t0005g0113 a0001c0140t0001g0055 a0001c0141t0001g0056 a0001c0142t0001g0057 a0001c0143t0001g0058 a0001c0144t0001g0059 a0001c0145t0001g0060 a0001c0146t0001g0061 a0001c0147t0001g0062 a0001c0148t0001g0063 a0001c0149t0001g0064 a0001c0150t0001g0065 a0001c0151t0003g0172 a0001c0152t0003g0156 a0001c0153t0004g0155 a0001c0154t0001g0066 a0001c0155t0002g0173 a0001c0156t0002g0174 a0001c0157t0002g0157 a0001c0158t0002g0158 a0001c0159t0013g0159 a0001c0160t0002g0175 a0001c0161t0002g0177 a0001c0162t0002g0170 a0001c0163t0002g0178 a0001c0164t0002g0051 a0001c0165t0002g0179 a0001c0166t0009g0180 a0001c0167t0002g0181 a0001c0168t0002g0182 a0001c0169t0018g0191 a0001c0170t0002g0183 a0001c0171t0002g0184 a0001c0172t0002g0185 a0001c0173t0002g0186 a0001c0174t0002g0187 a0001c0175t0002g0171 a0001c0176t0005g0152 a0001c0177t0005g0153 a0001c0178t0008g0150 a0001c0179t0005g0154	381	415	0.9181	-1	c.1de others(2): Show c.1delA	p.Met others(3): Show p.Met1fs	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	2/3	77/9629	1/8553	1/2850		chr1	TogoVar
IDO2_chr8_39929651_40021392	40015416	T T	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00558.hp2 HG00597.hp1 others(103): Show HG00280.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02683.hp2 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG06807.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18979.hp1 NA18981.hp2 NA18986.hp2 NA18989.hp1 NA18993.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0004 a0005c0005 a0003c0003 a0004c0004 a0005c0005	a0003c0003t0002 a0003c0003t0003 a0003c0003t0010 others(14): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0010 a0003c0003t0020 a0003c0003t0022 a0004c0004t0002 a0004c0004t0003 a0004c0004t0005 a0004c0004t0009 a0004c0004t0010 a0004c0004t0021 a0005c0005t0002 a0005c0005t0003 a0005c0005t0005 a0005c0005t0009 a0005c0005t0010 a0005c0005t0019	a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0021 others(102): Show a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0033 a0003c0003t0002g0035 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0068 a0003c0003t0002g0073 a0003c0003t0002g0074 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0078 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0003g0105 a0003c0003t0003g0119 a0003c0003t0003g0264 a0003c0003t0003g0265 a0003c0003t0003g0266 a0003c0003t0003g0275 a0003c0003t0003g0277 a0003c0003t0003g0278 a0003c0003t0003g0279 a0003c0003t0003g0283 a0003c0003t0003g0289 a0003c0003t0003g0293 a0003c0003t0003g0297 a0003c0003t0003g0298 a0003c0003t0003g0303 a0003c0003t0003g0317 a0003c0003t0003g0321 a0003c0003t0003g0322 a0003c0003t0003g0337 a0003c0003t0003g0348 a0003c0003t0003g0349 a0003c0003t0003g0350 a0003c0003t0003g0356 a0003c0003t0010g0104 a0003c0003t0010g0183 a0003c0003t0010g0186 a0003c0003t0010g0225 a0003c0003t0010g0228 a0003c0003t0010g0231 a0003c0003t0010g0244 a0003c0003t0010g0246 a0003c0003t0020g0037 a0003c0003t0022g0072 a0004c0004t0002g0038 a0004c0004t0002g0054 a0004c0004t0002g0077 a0004c0004t0003g0120 a0004c0004t0003g0122 a0004c0004t0003g0123 a0004c0004t0003g0201 a0004c0004t0003g0203 a0004c0004t0003g0276 a0004c0004t0003g0280 a0004c0004t0003g0355 a0004c0004t0005g0103 a0004c0004t0009g0195 a0004c0004t0009g0260 a0004c0004t0009g0267 a0004c0004t0009g0270 a0004c0004t0010g0190 a0004c0004t0010g0213 a0004c0004t0010g0237 a0004c0004t0010g0238 a0004c0004t0021g0007 a0005c0005t0002g0001 a0005c0005t0002g0020 a0005c0005t0002g0028 a0005c0005t0002g0030 a0005c0005t0002g0039 a0005c0005t0002g0046 a0005c0005t0002g0062 a0005c0005t0002g0069 a0005c0005t0003g0150 a0005c0005t0003g0290 a0005c0005t0003g0310 a0005c0005t0003g0312 a0005c0005t0003g0346 a0005c0005t0005g0129 a0005c0005t0009g0194 a0005c0005t0010g0220 a0005c0005t0010g0221 a0005c0005t0010g0222 a0005c0005t0019g0082	106	358	0.2961	0	c.103 others(4): Show c.1038T>A	p.Tyr others(4): Show p.Tyr346*	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	11/11	1623/2599	1038/1224	346/407		chr8	TogoVar
INMT_chr7_30747135_30762602	30755850	G G	C C	stop_lost stop_lost	HIGH	HG01256.hp1 HG01257.hp1 HG01258.hp2 others(2): Show HG01256.hp1 HG01257.hp1 HG01258.hp2 HG03239.hp1 HG04199.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0015 a0005c0003t0030 a0005c0003t0031 a0005c0003t0015 a0005c0003t0030 a0005c0003t0031	a0005c0003t0015g0004 a0005c0003t0030g0004 a0005c0003t0031g0004 a0005c0003t0015g0004 a0005c0003t0030g0004 a0005c0003t0031g0004	5	432	0.0116	0	c.791 others(3): Show c.791G>C	p.Ter others(11): Show p.Ter264Serext*?	INMT	ENSG00000241644.2	transcript	ENST00000013222.5	protein_coding	3/3	807/2559	791/792	264/263		chr7	TogoVar
IQCA1L_chr7_151185873_151210496	151195597	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00621.hp1 HG00639.hp2 others(129): Show HG00408.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18945.hp1 NA18947.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18992.hp2 NA18994.hp1 NA18997.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19065.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0002 a0005 a0008 others(8): Show a0002 a0005 a0008 a0009 a0014 a0016 a0018 a0025 a0051 a0058 a0060	a0002c0003 a0002c0012 a0002c0015 others(26): Show a0002c0003 a0002c0012 a0002c0015 a0002c0025 a0002c0036 a0002c0037 a0002c0075 a0002c0076 a0002c0087 a0002c0102 a0005c0005 a0005c0019 a0005c0097 a0008c0024 a0008c0030 a0008c0042 a0008c0043 a0009c0011 a0014c0026 a0014c0028 a0016c0022 a0016c0081 a0018c0035 a0018c0073 a0018c0074 a0025c0041 a0051c0067 a0058c0086 a0060c0095	a0002c0003t0001 a0002c0012t0001 a0002c0015t0001 others(26): Show a0002c0003t0001 a0002c0012t0001 a0002c0015t0001 a0002c0025t0001 a0002c0036t0001 a0002c0037t0001 a0002c0075t0001 a0002c0076t0001 a0002c0087t0001 a0002c0102t0001 a0005c0005t0001 a0005c0019t0001 a0005c0097t0001 a0008c0024t0001 a0008c0030t0001 a0008c0042t0001 a0008c0043t0001 a0009c0011t0001 a0014c0026t0001 a0014c0028t0001 a0016c0022t0001 a0016c0081t0001 a0018c0035t0001 a0018c0073t0001 a0018c0074t0001 a0025c0041t0001 a0051c0067t0001 a0058c0086t0001 a0060c0095t0001	a0002c0003t0001g0007 a0002c0003t0001g0023 a0002c0003t0001g0026 others(80): Show a0002c0003t0001g0007 a0002c0003t0001g0023 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0053 a0002c0003t0001g0099 a0002c0003t0001g0108 a0002c0003t0001g0152 a0002c0003t0001g0180 a0002c0003t0001g0182 a0002c0003t0001g0190 a0002c0012t0001g0013 a0002c0012t0001g0107 a0002c0012t0001g0134 a0002c0012t0001g0151 a0002c0012t0001g0154 a0002c0012t0001g0179 a0002c0012t0001g0183 a0002c0012t0001g0189 a0002c0015t0001g0003 a0002c0025t0001g0030 a0002c0025t0001g0280 a0002c0025t0001g0281 a0002c0036t0001g0153 a0002c0036t0001g0178 a0002c0037t0001g0116 a0002c0037t0001g0135 a0002c0075t0001g0188 a0002c0076t0001g0131 a0002c0087t0001g0124 a0002c0102t0001g0282 a0005c0005t0001g0006 a0005c0005t0001g0058 a0005c0005t0001g0060 a0005c0005t0001g0061 a0005c0005t0001g0065 a0005c0005t0001g0201 a0005c0005t0001g0207 a0005c0005t0001g0222 a0005c0005t0001g0223 a0005c0005t0001g0230 a0005c0005t0001g0240 a0005c0019t0001g0062 a0005c0019t0001g0221 a0005c0019t0001g0226 a0005c0019t0001g0231 a0005c0019t0001g0238 a0005c0097t0001g0239 a0008c0024t0001g0063 a0008c0024t0001g0208 a0008c0024t0001g0211 a0008c0024t0001g0250 a0008c0030t0001g0056 a0008c0030t0001g0251 a0008c0042t0001g0209 a0008c0042t0001g0254 a0008c0043t0001g0247 a0008c0043t0001g0260 a0009c0011t0001g0004 a0009c0011t0001g0193 a0009c0011t0001g0195 a0009c0011t0001g0196 a0014c0026t0001g0075 a0014c0026t0001g0086 a0014c0026t0001g0087 a0014c0026t0001g0088 a0014c0028t0001g0020 a0016c0022t0001g0112 a0016c0022t0001g0129 a0016c0022t0001g0167 a0016c0022t0001g0168 a0016c0022t0001g0170 a0016c0081t0001g0118 a0018c0035t0001g0176 a0018c0035t0001g0177 a0018c0073t0001g0119 a0018c0074t0001g0175 a0025c0041t0001g0055 a0051c0067t0001g0192 a0058c0086t0001g0098 a0060c0095t0001g0204	132	446	0.2960	-1	c.137 others(5): Show c.1375delG	p.Glu others(5): Show p.Glu459fs	IQCA1L	ENSG00000278685.4	transcript	ENST00000615129.4	protein_coding	11/19	1417/2606	1375/2457	459/818		chr7	TogoVar
IRX5_chr16_54925865_54939485	54933218	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00408.hp2 HG00597.hp1 others(30): Show HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01433.hp1 HG01934.hp2 HG01981.hp2 HG02074.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03139.hp2 HG03669.hp1 HG03688.hp2 HG03927.hp1 HG04115.hp2 NA18977.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19054.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0001 a0004c0005t0001 a0004c0005t0002 others(2): Show a0003c0004t0001 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0004	a0003c0004t0001g0001 a0003c0004t0001g0009 a0004c0005t0001g0001 others(4): Show a0003c0004t0001g0001 a0003c0004t0001g0009 a0004c0005t0001g0001 a0004c0005t0002g0002 a0004c0005t0002g0004 a0004c0005t0003g0001 a0004c0005t0004g0003	33	387	0.0853	1	c.805 others(4): Show c.805dupC	p.Arg others(5): Show p.Arg269fs	IRX5	ENSG00000176842.16	transcript	ENST00000394636.9	protein_coding	3/3	1140/2398	806/1452	269/483	INFO_REALIGN_3_PRIME	chr16	TogoVar
KANK2_chr19_11159270_11202545	11193579	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG01169.hp1 HG01257.hp1 others(7): Show HG00438.hp1 HG01169.hp1 HG01257.hp1 HG02602.hp2 HG02738.hp1 NA18965.hp1 NA18978.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2	a0002 a0004 a0002 a0004	a0002c0014 a0002c0019 a0004c0006 others(2): Show a0002c0014 a0002c0019 a0004c0006 a0004c0023 a0004c0024	a0002c0014t0001 a0002c0014t0007 a0002c0019t0002 others(5): Show a0002c0014t0001 a0002c0014t0007 a0002c0019t0002 a0004c0006t0001 a0004c0006t0004 a0004c0006t0008 a0004c0023t0059 a0004c0024t0002	a0002c0014t0001g0198 a0002c0014t0007g0197 a0002c0019t0002g0344 others(7): Show a0002c0014t0001g0198 a0002c0014t0007g0197 a0002c0019t0002g0344 a0004c0006t0001g0164 a0004c0006t0004g0204 a0004c0006t0004g0205 a0004c0006t0004g0206 a0004c0006t0008g0207 a0004c0023t0059g0077 a0004c0024t0002g0374	10	392	0.0255	1	c.500 others(4): Show c.500dupC	p.Thr others(5): Show p.Thr168fs	KANK2	ENSG00000197256.11	transcript	ENST00000586659.6	protein_coding	4/13	839/5183	500/2556	167/851		chr19	TogoVar
KIF25_chr6_167992671_168050091	168029510	C C	CTGACATG others(69): Show CTGACATGGACCTCAGGTCAGCTTCAGCGTGAGAAGCAGGCCAGGCCTGG GTCTGGAGCCGTCCTGGCCTTCCCAGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 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 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.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 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.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 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 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 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012 a0013 a0015 a0016 a0017 a0018 a0019	a0001c0001 a0001c0003 a0001c0006 others(20): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0001c0019 a0001c0022 a0002c0002 a0002c0015 a0003c0004 a0004c0005 a0005c0007 a0005c0024 a0006c0008 a0008c0012 a0009c0013 a0010c0011 a0012c0014 a0013c0020 a0015c0016 a0016c0023 a0017c0025 a0018c0021 a0019c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0032 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0003t0004 a0001c0003t0009 a0001c0003t0011 a0001c0003t0015 a0001c0003t0026 a0001c0003t0029 a0001c0003t0037 a0001c0003t0051 a0001c0006t0002 a0001c0006t0005 a0001c0006t0019 a0001c0010t0023 a0001c0019t0018 a0001c0022t0010 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0011 a0002c0002t0013 a0002c0002t0022 a0002c0002t0030 a0002c0002t0040 a0002c0002t0046 a0002c0002t0052 a0002c0002t0053 a0002c0015t0003 a0003c0004t0001 a0003c0004t0005 a0003c0004t0010 a0003c0004t0021 a0003c0004t0044 a0003c0004t0047 a0004c0005t0004 a0004c0005t0015 a0005c0007t0010 a0005c0007t0020 a0005c0024t0002 a0006c0008t0016 a0008c0012t0001 a0008c0012t0010 a0009c0013t0016 a0009c0013t0018 a0010c0011t0001 a0010c0011t0005 a0012c0014t0010 a0013c0020t0001 a0015c0016t0003 a0016c0023t0005 a0017c0025t0001 a0018c0021t0001 a0019c0017t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(323): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0328 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0148 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0161 a0001c0001t0008g0274 a0001c0001t0008g0275 a0001c0001t0008g0276 a0001c0001t0008g0277 a0001c0001t0008g0278 a0001c0001t0008g0279 a0001c0001t0008g0280 a0001c0001t0008g0281 a0001c0001t0008g0282 a0001c0001t0008g0286 a0001c0001t0009g0050 a0001c0001t0009g0057 a0001c0001t0009g0109 a0001c0001t0009g0128 a0001c0001t0009g0130 a0001c0001t0009g0131 a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0010g0256 a0001c0001t0011g0126 a0001c0001t0011g0127 a0001c0001t0012g0142 a0001c0001t0012g0143 a0001c0001t0012g0156 a0001c0001t0012g0159 a0001c0001t0012g0160 a0001c0001t0013g0237 a0001c0001t0018g0272 a0001c0001t0021g0033 a0001c0001t0021g0105 a0001c0001t0024g0283 a0001c0001t0024g0284 a0001c0001t0032g0294 a0001c0001t0038g0362 a0001c0001t0039g0147 a0001c0001t0041g0208 a0001c0001t0042g0260 a0001c0003t0004g0016 a0001c0003t0004g0031 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0004g0048 a0001c0003t0004g0049 a0001c0003t0004g0051 a0001c0003t0004g0052 a0001c0003t0004g0053 a0001c0003t0004g0054 a0001c0003t0004g0056 a0001c0003t0004g0058 a0001c0003t0004g0059 a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0063 a0001c0003t0004g0064 a0001c0003t0004g0067 a0001c0003t0004g0068 a0001c0003t0004g0129 a0001c0003t0004g0364 a0001c0003t0004g0365 a0001c0003t0009g0062 a0001c0003t0011g0040 a0001c0003t0015g0287 a0001c0003t0015g0288 a0001c0003t0026g0184 a0001c0003t0026g0233 a0001c0003t0029g0332 a0001c0003t0029g0354 a0001c0003t0037g0238 a0001c0003t0051g0092 a0001c0006t0002g0262 a0001c0006t0005g0355 a0001c0006t0005g0356 a0001c0006t0019g0138 a0001c0006t0019g0139 a0001c0006t0019g0140 a0001c0010t0023g0352 a0001c0010t0023g0353 a0001c0019t0018g0271 a0001c0022t0010g0257 a0002c0002t0001g0231 a0002c0002t0001g0240 a0002c0002t0003g0010 a0002c0002t0003g0022 a0002c0002t0003g0028 a0002c0002t0003g0030 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0039 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0079 a0002c0002t0003g0081 a0002c0002t0003g0084 a0002c0002t0003g0086 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0102 a0002c0002t0003g0104 a0002c0002t0003g0134 a0002c0002t0003g0136 a0002c0002t0003g0162 a0002c0002t0003g0319 a0002c0002t0003g0326 a0002c0002t0003g0327 a0002c0002t0005g0340 a0002c0002t0005g0350 a0002c0002t0005g0351 a0002c0002t0011g0065 a0002c0002t0011g0124 a0002c0002t0011g0125 a0002c0002t0013g0180 a0002c0002t0013g0246 a0002c0002t0013g0247 a0002c0002t0013g0248 a0002c0002t0022g0100 a0002c0002t0022g0101 a0002c0002t0030g0080 a0002c0002t0030g0083 a0002c0002t0040g0082 a0002c0002t0046g0337 a0002c0002t0052g0034 a0002c0002t0053g0029 a0002c0015t0003g0135 a0003c0004t0001g0177 a0003c0004t0001g0199 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0001g0221 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0001g0224 a0003c0004t0005g0009 a0003c0004t0005g0017 a0003c0004t0005g0329 a0003c0004t0005g0330 a0003c0004t0005g0331 a0003c0004t0005g0334 a0003c0004t0005g0335 a0003c0004t0005g0336 a0003c0004t0005g0338 a0003c0004t0005g0339 a0003c0004t0005g0341 a0003c0004t0005g0342 a0003c0004t0005g0344 a0003c0004t0005g0345 a0003c0004t0005g0346 a0003c0004t0005g0347 a0003c0004t0005g0348 a0003c0004t0005g0349 a0003c0004t0005g0357 a0003c0004t0005g0359 a0003c0004t0005g0360 a0003c0004t0010g0018 a0003c0004t0021g0103 a0003c0004t0044g0333 a0003c0004t0047g0358 a0004c0005t0004g0001 a0004c0005t0004g0121 a0004c0005t0004g0122 a0004c0005t0004g0123 a0004c0005t0004g0137 a0004c0005t0015g0163 a0004c0005t0015g0164 a0005c0007t0010g0019 a0005c0007t0020g0023 a0005c0007t0020g0024 a0005c0007t0020g0026 a0005c0024t0002g0261 a0006c0008t0016g0167 a0006c0008t0016g0169 a0006c0008t0016g0170 a0008c0012t0001g0250 a0008c0012t0010g0258 a0009c0013t0016g0168 a0009c0013t0018g0273 a0010c0011t0001g0186 a0010c0011t0005g0363 a0012c0014t0010g0255 a0013c0020t0001g0241 a0015c0016t0003g0093 a0016c0023t0005g0343 a0017c0025t0001g0229 a0018c0021t0001g0202 a0019c0017t0002g0315	335	371	0.9030	76	c.7_8 others(80): Show c.7_82dupTGGACCTCAGGTCAGCTTCAGCGTGAGAAGCAGGCCAGGCC TGGGTCTGGAGCCGTCCTGGCCTTCCCAGATGACA	p.Lys others(4): Show p.Lys28fs	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	6/13	1881/3048	83/1155	28/384	INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF26A_chr14_104133587_104185894	104177436	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00673.hp2 HG01099.hp2 HG01169.hp2 others(18): Show HG00673.hp2 HG01099.hp2 HG01169.hp2 HG01257.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG02071.hp1 HG02135.hp1 HG02257.hp2 HG02602.hp1 HG02818.hp1 HG03927.hp2 HG04115.hp2 NA19000.hp2 NA19058.hp1 NA19063.hp1 NA19080.hp2 NA19090.hp2 NA20752.hp2	a0002 a0012 a0013 others(1): Show a0002 a0012 a0013 a0021	a0002c0013 a0002c0019 a0002c0023 others(11): Show a0002c0013 a0002c0019 a0002c0023 a0002c0050 a0002c0060 a0002c0073 a0002c0083 a0002c0084 a0002c0090 a0002c0101 a0012c0066 a0012c0104 a0013c0028 a0021c0094	a0002c0013t0001 a0002c0013t0002 a0002c0013t0003 others(15): Show a0002c0013t0001 a0002c0013t0002 a0002c0013t0003 a0002c0019t0001 a0002c0019t0006 a0002c0023t0001 a0002c0050t0007 a0002c0060t0001 a0002c0073t0002 a0002c0083t0004 a0002c0084t0019 a0002c0090t0023 a0002c0101t0036 a0012c0066t0001 a0012c0104t0008 a0013c0028t0001 a0013c0028t0002 a0021c0094t0004	a0002c0013t0001g0360 a0002c0013t0002g0126 a0002c0013t0002g0358 others(18): Show a0002c0013t0001g0360 a0002c0013t0002g0126 a0002c0013t0002g0358 a0002c0013t0003g0221 a0002c0019t0001g0150 a0002c0019t0001g0254 a0002c0019t0006g0084 a0002c0023t0001g0170 a0002c0023t0001g0212 a0002c0050t0007g0153 a0002c0060t0001g0175 a0002c0073t0002g0294 a0002c0083t0004g0236 a0002c0084t0019g0002 a0002c0090t0023g0239 a0002c0101t0036g0099 a0012c0066t0001g0072 a0012c0104t0008g0324 a0013c0028t0001g0102 a0013c0028t0002g0318 a0021c0094t0004g0164	21	372	0.0565	1	c.465 others(5): Show c.4652dupG	p.Thr others(6): Show p.Thr1552fs	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	12/15	4789/6889	4653/5649	1551/1882	INFO_REALIGN_3_PRIME	chr14	TogoVar
KIR3DL1_chr19_54811468_54835778	54829458	C C	CA CA	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02027.hp2 HG02083.hp1 HG02132.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02886.hp1 HG02965.hp1 HG03834.hp2 HG04115.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0002 a0026 a0002 a0026	a0002c0003 a0002c0031 a0026c0030 a0002c0003 a0002c0031 a0026c0030	a0002c0003t0002 a0002c0031t0002 a0026c0030t0002 a0002c0003t0002 a0002c0031t0002 a0026c0030t0002	a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 others(12): Show a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0070 a0002c0003t0002g0073 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0002g0082 a0002c0031t0002g0072 a0026c0030t0002g0074	62	394	0.1574	1	c.110 others(5): Show c.1105dupA		KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding	7/8				INFO_REALIGN_3_PRIME	chr19	TogoVar
KIR3DL1_chr19_54811468_54835778	54829965	AAC AAC	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02027.hp2 HG02083.hp1 HG02132.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02886.hp1 HG02965.hp1 HG03834.hp2 HG04115.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0002 a0026 a0002 a0026	a0002c0003 a0002c0031 a0026c0030 a0002c0003 a0002c0031 a0026c0030	a0002c0003t0002 a0002c0031t0002 a0026c0030t0002 a0002c0003t0002 a0002c0031t0002 a0026c0030t0002	a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 others(12): Show a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0070 a0002c0003t0002g0073 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0002g0082 a0002c0031t0002g0072 a0026c0030t0002g0074	62	394	0.1574	-2	c.114 others(11): Show c.1145_1146delCA	p.Thr others(5): Show p.Thr382fs	KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding	8/9	1178/1871	1145/1335	382/444	INFO_REALIGN_3_PRIME	chr19	TogoVar
KIR3DL1_chr19_54811468_54835778	54830138	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02027.hp2 HG02083.hp1 HG02132.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02886.hp1 HG02965.hp1 HG03834.hp2 HG04115.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0002 a0026 a0002 a0026	a0002c0003 a0002c0031 a0026c0030 a0002c0003 a0002c0031 a0026c0030	a0002c0003t0002 a0002c0031t0002 a0026c0030t0002 a0002c0003t0002 a0002c0031t0002 a0026c0030t0002	a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 others(12): Show a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0070 a0002c0003t0002g0073 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0002g0082 a0002c0031t0002g0072 a0026c0030t0002g0074	62	394	0.1574	0	c.119 others(4): Show c.1198C>T	p.Gln others(4): Show p.Gln400*	KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding	9/9	1231/1871	1198/1335	400/444		chr19	TogoVar
KIR3DL1_chr19_54811468_54835778	54830273	T T	C C	stop_lost stop_lost	HIGH	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02027.hp2 HG02083.hp1 HG02132.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02886.hp1 HG02965.hp1 HG03834.hp2 HG04115.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0002 a0026 a0002 a0026	a0002c0003 a0002c0031 a0026c0030 a0002c0003 a0002c0031 a0026c0030	a0002c0003t0002 a0002c0031t0002 a0026c0030t0002 a0002c0003t0002 a0002c0031t0002 a0026c0030t0002	a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 others(12): Show a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0070 a0002c0003t0002g0073 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0002g0082 a0002c0031t0002g0072 a0026c0030t0002g0074	62	394	0.1574	0	c.133 others(4): Show c.1333T>C	p.Ter others(11): Show p.Ter445Argext*?	KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding	9/9	1366/1871	1333/1335	445/444		chr19	TogoVar
KISS1_chr1_204185341_204201491	204190483	CT CT	C C	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(118): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02818.hp1 HG02886.hp1 HG03017.hp1 HG03225.hp2 HG03491.hp1 HG03492.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18966.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA20752.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0014 others(1): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0014 a0002c0002t0017	a0002c0002t0002g0001 a0002c0002t0002g0008 a0002c0002t0002g0020 others(31): Show a0002c0002t0002g0001 a0002c0002t0002g0008 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0032 a0002c0002t0002g0036 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0058 a0002c0002t0002g0063 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0004g0009 a0002c0002t0004g0013 a0002c0002t0004g0024 a0002c0002t0004g0099 a0002c0002t0004g0101 a0002c0002t0004g0104 a0002c0002t0004g0116 a0002c0002t0004g0122 a0002c0002t0014g0057 a0002c0002t0014g0074 a0002c0002t0017g0117 a0002c0002t0017g0130	121	398	0.3040	-1	c.417 others(4): Show c.417delA	p.Ter others(5): Show p.Ter139fs	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	3/3	571/714	417/417	139/138		chr1	TogoVar

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