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	distance	status	chr	external
HECW2_chr2_196189072_196598554	196278131	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0046 a0001c0002t0011g0046	1	112	0.0089	18	c.313 others(35): Show c.3135+396_3135+397insATATATATATATATATAT		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	15/28						chr2	TogoVar
HECW2_chr2_196189072_196598554	196310768	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01496.hp2 others(7): Show HG01168.hp1 HG01169.hp2 HG01496.hp2 HG02895.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03834.hp2 NA18906.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014	a0001c0001t0017 a0001c0001t0023 a0001c0002t0001 others(5): Show a0001c0001t0017 a0001c0001t0023 a0001c0002t0001 a0001c0002t0006 a0001c0002t0011 a0001c0003t0009 a0001c0003t0010 a0001c0014t0026	a0001c0001t0017g0111 a0001c0001t0023g0109 a0001c0002t0001g0049 others(7): Show a0001c0001t0017g0111 a0001c0001t0023g0109 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0104 a0001c0002t0006g0077 a0001c0002t0011g0046 a0001c0003t0009g0073 a0001c0003t0010g0025 a0001c0014t0026g0078	10	112	0.0893	18	c.243 others(37): Show c.2435-2701_2435-2684dupCACACACACACACACACA		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	10/28						chr2	TogoVar
HECW2_chr2_196189072_196598554	196367854	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0008 a0005c0022t0008	a0005c0022t0008g0017 a0005c0022t0008g0017	1	112	0.0089	18	c.293 others(37): Show c.293-24108_293-24091dupCACACACACACACACACA		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	2/28						chr2	TogoVar
HECW2_chr2_196189072_196598554	196369342	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02723.hp2 HG03492.hp2 HG02630.hp2 HG02723.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0004 a0001c0005t0012 a0001c0001t0001 a0001c0003t0004 a0001c0005t0012	a0001c0001t0001g0009 a0001c0003t0004g0074 a0001c0005t0012g0056 a0001c0001t0001g0009 a0001c0003t0004g0074 a0001c0005t0012g0056	3	112	0.0268	18	c.293 others(37): Show c.293-25596_293-25579dupGAGAGAGAGAGAGAGAGA		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	2/28						chr2	TogoVar
HECW2_chr2_196189072_196598554	196423684	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp1 HG02738.hp2 others(5): Show HG02145.hp1 HG02723.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG03130.hp2 HG03225.hp1 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0022	a0001c0001t0004 a0001c0001t0017 a0001c0001t0023 others(4): Show a0001c0001t0004 a0001c0001t0017 a0001c0001t0023 a0001c0002t0001 a0001c0002t0032 a0001c0003t0010 a0005c0022t0008	a0001c0001t0004g0107 a0001c0001t0004g0110 a0001c0001t0017g0111 others(5): Show a0001c0001t0004g0107 a0001c0001t0004g0110 a0001c0001t0017g0111 a0001c0001t0023g0109 a0001c0002t0001g0003 a0001c0002t0032g0090 a0001c0003t0010g0025 a0005c0022t0008g0017	8	112	0.0714	18	c.292 others(35): Show c.292+9430_292+9447dupCACACACACACACACACA		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	2/28						chr2	TogoVar
HEG1_chr3_124960710_125060997	124987924	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG02055.hp2 others(3): Show HG01109.hp2 HG01192.hp1 HG02055.hp2 HG02148.hp1 HG02886.hp2 NA18906.hp2	a0001 a0004 a0018 a0001 a0004 a0018	a0001c0001 a0004c0005 a0018c0037 a0001c0001 a0004c0005 a0018c0037	a0001c0001t0059 a0001c0001t0070 a0001c0001t0127 others(2): Show a0001c0001t0059 a0001c0001t0070 a0001c0001t0127 a0004c0005t0010 a0018c0037t0063	a0001c0001t0059g0262 a0001c0001t0070g0194 a0001c0001t0127g0301 others(3): Show a0001c0001t0059g0262 a0001c0001t0070g0194 a0001c0001t0127g0301 a0004c0005t0010g0066 a0004c0005t0010g0165 a0018c0037t0063g0256	6	362	0.0166	18	c.373 others(37): Show c.3733+2845_3733+2862dupGTGTGTGTGTGTGTGTGT		HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16						chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG00738.hp2 others(26): Show HG00323.hp2 HG00733.hp2 HG00738.hp2 HG01071.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01361.hp1 HG02074.hp1 HG02738.hp1 HG03453.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18951.hp1 NA18952.hp1 NA18959.hp2 NA18970.hp2 NA18983.hp1 NA18990.hp2 NA19001.hp1 NA19062.hp1 NA19076.hp2 NA19078.hp2 NA19082.hp1 NA19088.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0009 a0011 a0013 a0015 a0024 a0052	a0001c0001 a0001c0002 a0001c0085 others(9): Show a0001c0001 a0001c0002 a0001c0085 a0002c0003 a0004c0005 a0004c0033 a0009c0009 a0011c0008 a0013c0040 a0015c0017 a0024c0031 a0052c0094	a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 others(23): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0098 a0001c0001t0099 a0001c0001t0113 a0001c0002t0005 a0001c0085t0132 a0002c0003t0078 a0004c0005t0004 a0004c0005t0011 a0004c0005t0012 a0004c0005t0027 a0004c0005t0028 a0004c0033t0094 a0009c0009t0004 a0009c0009t0018 a0009c0009t0061 a0011c0008t0027 a0011c0008t0036 a0013c0040t0028 a0015c0017t0028 a0015c0017t0096 a0024c0031t0012 a0024c0031t0043 a0052c0094t0004	a0001c0001t0004g0295 a0001c0001t0011g0183 a0001c0001t0012g0172 others(26): Show a0001c0001t0004g0295 a0001c0001t0011g0183 a0001c0001t0012g0172 a0001c0001t0098g0188 a0001c0001t0099g0140 a0001c0001t0113g0150 a0001c0002t0005g0288 a0001c0085t0132g0289 a0002c0003t0078g0073 a0004c0005t0004g0278 a0004c0005t0011g0197 a0004c0005t0012g0112 a0004c0005t0012g0157 a0004c0005t0027g0260 a0004c0005t0028g0261 a0004c0033t0094g0164 a0009c0009t0004g0330 a0009c0009t0018g0339 a0009c0009t0061g0321 a0011c0008t0027g0236 a0011c0008t0036g0240 a0011c0008t0036g0241 a0011c0008t0036g0242 a0013c0040t0028g0336 a0015c0017t0028g0284 a0015c0017t0096g0048 a0024c0031t0012g0032 a0024c0031t0043g0038 a0052c0094t0004g0332	29	362	0.0801	18	c.373 others(37): Show c.3733+2834_3733+2835insATGTGTGTGTGTGTGTGT		HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16						chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(11): Show CACACACACACACATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02293.hp1 NA19003.hp1 HG01109.hp1 HG02293.hp1 NA19003.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0008 a0007c0011t0010 a0001c0001t0008 a0007c0011t0010	a0001c0001t0008g0244 a0001c0001t0008g0247 a0007c0011t0010g0191 a0001c0001t0008g0244 a0001c0001t0008g0247 a0007c0011t0010g0191	3	362	0.0083	18	c.373 others(37): Show c.3733+2834_3733+2835insATATATGTGTGTGTGTGT		HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16						chr3	TogoVar
HEG1_chr3_124960710_125060997	125013575	A A	AGAGGAGG others(11): Show AGAGGAGGAGGAGGAAGAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00323.hp2 HG00544.hp2 others(108): Show HG00099.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01109.hp2 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02155.hp2 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18983.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19078.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1	a0002 a0004 a0005 others(16): Show a0002 a0004 a0005 a0008 a0013 a0015 a0024 a0026 a0031 a0032 a0037 a0039 a0040 a0044 a0045 a0046 a0048 a0052 a0056	a0002c0003 a0002c0014 a0002c0049 others(33): Show a0002c0003 a0002c0014 a0002c0049 a0002c0071 a0004c0005 a0004c0028 a0004c0033 a0004c0035 a0004c0044 a0004c0048 a0004c0081 a0004c0082 a0005c0007 a0005c0038 a0005c0039 a0008c0012 a0008c0013 a0008c0060 a0013c0040 a0013c0042 a0013c0089 a0015c0017 a0024c0031 a0026c0053 a0026c0054 a0031c0097 a0032c0055 a0037c0083 a0039c0087 a0040c0078 a0044c0074 a0045c0073 a0046c0072 a0048c0070 a0052c0094 a0056c0092	a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 others(78): Show a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0007 a0002c0003t0015 a0002c0003t0046 a0002c0003t0074 a0002c0003t0078 a0002c0003t0082 a0002c0003t0089 a0002c0014t0006 a0002c0014t0015 a0002c0014t0075 a0002c0014t0120 a0002c0014t0121 a0002c0049t0087 a0002c0071t0083 a0004c0005t0004 a0004c0005t0009 a0004c0005t0010 a0004c0005t0011 a0004c0005t0012 a0004c0005t0027 a0004c0005t0028 a0004c0005t0042 a0004c0005t0043 a0004c0005t0135 a0004c0028t0020 a0004c0028t0080 a0004c0033t0023 a0004c0033t0094 a0004c0035t0001 a0004c0044t0023 a0004c0048t0029 a0004c0081t0116 a0004c0082t0069 a0005c0007t0013 a0005c0007t0014 a0005c0007t0025 a0005c0007t0055 a0005c0007t0060 a0005c0007t0123 a0005c0007t0125 a0005c0007t0129 a0005c0007t0136 a0005c0007t0137 a0005c0038t0013 a0005c0038t0131 a0005c0039t0017 a0008c0012t0013 a0008c0012t0017 a0008c0013t0004 a0008c0013t0006 a0008c0013t0014 a0008c0013t0058 a0008c0013t0124 a0008c0060t0139 a0013c0040t0028 a0013c0040t0059 a0013c0042t0004 a0013c0042t0134 a0013c0089t0026 a0015c0017t0028 a0015c0017t0041 a0015c0017t0045 a0015c0017t0096 a0024c0031t0012 a0024c0031t0043 a0026c0053t0001 a0026c0054t0110 a0031c0097t0015 a0032c0055t0002 a0037c0083t0046 a0039c0087t0021 a0040c0078t0015 a0044c0074t0071 a0045c0073t0056 a0046c0072t0026 a0048c0070t0012 a0052c0094t0004 a0056c0092t0133	a0002c0003t0002g0156 a0002c0003t0003g0003 a0002c0003t0003g0004 others(104): Show a0002c0003t0002g0156 a0002c0003t0003g0003 a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0099 a0002c0003t0003g0105 a0002c0003t0003g0106 a0002c0003t0003g0126 a0002c0003t0003g0173 a0002c0003t0006g0267 a0002c0003t0006g0286 a0002c0003t0007g0069 a0002c0003t0007g0070 a0002c0003t0007g0076 a0002c0003t0007g0082 a0002c0003t0007g0100 a0002c0003t0007g0148 a0002c0003t0015g0071 a0002c0003t0015g0083 a0002c0003t0046g0117 a0002c0003t0074g0075 a0002c0003t0078g0073 a0002c0003t0082g0184 a0002c0003t0089g0125 a0002c0014t0006g0258 a0002c0014t0015g0116 a0002c0014t0075g0078 a0002c0014t0120g0263 a0002c0014t0121g0257 a0002c0049t0087g0028 a0002c0071t0083g0185 a0004c0005t0004g0278 a0004c0005t0009g0077 a0004c0005t0010g0044 a0004c0005t0010g0066 a0004c0005t0010g0165 a0004c0005t0010g0202 a0004c0005t0011g0197 a0004c0005t0012g0112 a0004c0005t0012g0157 a0004c0005t0027g0260 a0004c0005t0028g0259 a0004c0005t0028g0261 a0004c0005t0042g0158 a0004c0005t0043g0147 a0004c0005t0135g0272 a0004c0028t0020g0025 a0004c0028t0080g0027 a0004c0033t0023g0163 a0004c0033t0094g0164 a0004c0035t0001g0102 a0004c0035t0001g0154 a0004c0044t0023g0015 a0004c0048t0029g0023 a0004c0081t0116g0246 a0004c0082t0069g0190 a0005c0007t0013g0307 a0005c0007t0013g0314 a0005c0007t0013g0338 a0005c0007t0014g0309 a0005c0007t0025g0308 a0005c0007t0055g0322 a0005c0007t0060g0334 a0005c0007t0060g0335 a0005c0007t0123g0351 a0005c0007t0125g0346 a0005c0007t0129g0347 a0005c0007t0136g0319 a0005c0007t0137g0337 a0005c0038t0013g0324 a0005c0038t0131g0303 a0005c0039t0017g0325 a0005c0039t0017g0340 a0008c0012t0013g0227 a0008c0012t0013g0228 a0008c0012t0017g0006 a0008c0012t0017g0226 a0008c0013t0004g0212 a0008c0013t0006g0229 a0008c0013t0014g0213 a0008c0013t0058g0230 a0008c0013t0124g0234 a0008c0060t0139g0218 a0013c0040t0028g0336 a0013c0040t0059g0315 a0013c0042t0004g0349 a0013c0042t0134g0345 a0013c0089t0026g0313 a0015c0017t0028g0284 a0015c0017t0041g0152 a0015c0017t0045g0131 a0015c0017t0096g0048 a0024c0031t0012g0032 a0024c0031t0043g0038 a0026c0053t0001g0033 a0026c0054t0110g0039 a0031c0097t0015g0207 a0032c0055t0002g0040 a0037c0083t0046g0118 a0039c0087t0021g0090 a0040c0078t0015g0155 a0044c0074t0071g0189 a0045c0073t0056g0299 a0046c0072t0026g0271 a0048c0070t0012g0052 a0052c0094t0004g0332 a0056c0092t0133g0316	111	362	0.3066	18	c.198 others(27): Show c.1986_2003dupCTCTTCCTCCTCCTCCTC	p.Ser others(13): Show p.Ser663_Ser668dup	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	6/17	2110/9195	2003/4146	668/1381			chr3	TogoVar
HELB_chr12_66297493_66343199	66316567	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0239 a0010c0013t0001g0239	1	390	0.0026	18	c.200 others(37): Show c.2000+1202_2000+1219dupTAATAATAATAATAATAA		HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
HELB_chr12_66297493_66343199	66327066	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0177 a0005c0015t0001g0177	1	390	0.0026	18	c.267 others(37): Show c.2670+1956_2670+1957insATATATATATATATATAT		HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
HELT_chr4_185013490_185025953	185023078	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	454	0.0022	18	c.23 others(29): Show c.2306_*2307insCTCTCTCTCTCTCTCCCC		HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding					2126		chr4	TogoVar
HELT_chr4_185013490_185025953	185023078	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	454	0.0022	18	c.23 others(29): Show c.2306_*2307insCTCTCTCTCTCTCTCTCC		HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding					2126		chr4	TogoVar
HELZ_chr17_67065444_67250196	67086615	A A	AATAAATA others(11): Show AATAAATATAAATATAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0263 a0001c0001t0004g0263	1	274	0.0037	18	c.549 others(35): Show c.5494+196_5494+213dupATTTATATTTATATTTAT		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	32/32						chr17	TogoVar
HELZ_chr17_67065444_67250196	67086631	A A	AATATAAA others(11): Show AATATAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0022 a0002c0002t0005 a0001c0006t0022 a0002c0002t0005	a0001c0006t0022g0014 a0002c0002t0005g0016 a0002c0002t0005g0086 a0001c0006t0022g0014 a0002c0002t0005g0016 a0002c0002t0005g0086	3	274	0.0110	18	c.549 others(35): Show c.5494+197_5494+198insATATATATATATTTATAT		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	32/32						chr17	TogoVar
HELZ_chr17_67065444_67250196	67086631	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01255.hp1 HG04199.hp1 others(3): Show HG01099.hp1 HG01255.hp1 HG04199.hp1 NA18965.hp1 NA19000.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0034 a0001c0003t0002 a0002c0002t0003 others(2): Show a0001c0001t0034 a0001c0003t0002 a0002c0002t0003 a0002c0002t0023 a0002c0002t0031	a0001c0001t0034g0273 a0001c0003t0002g0119 a0002c0002t0003g0039 others(3): Show a0001c0001t0034g0273 a0001c0003t0002g0119 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0023g0046 a0002c0002t0031g0065	6	274	0.0219	18	c.549 others(35): Show c.5494+180_5494+197dupATATATATATATATATAT		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	32/32						chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(11): Show TATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18941.hp1 HG00639.hp2 NA18941.hp1	a0002 a0012 a0002 a0012	a0002c0002 a0012c0017 a0002c0002 a0012c0017	a0002c0002t0003 a0012c0017t0026 a0002c0002t0003 a0012c0017t0026	a0002c0002t0003g0035 a0012c0017t0026g0008 a0002c0002t0003g0035 a0012c0017t0026g0008	2	274	0.0073	18	c.524 others(37): Show c.5242-2588_5242-2587insCTCTCTCTCTCTATATAT		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32						chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(11): Show TATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0200 a0001c0001t0010g0200	1	274	0.0037	18	c.524 others(37): Show c.5242-2588_5242-2587insCTCTCTCTCTATATATAT		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32						chr17	TogoVar
HELZ_chr17_67065444_67250196	67089694	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0012 a0001c0001t0043g0012	1	274	0.0037	18	c.524 others(37): Show c.5242-2614_5242-2613insGTCTCTCTCTCTCTCTCT		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32						chr17	TogoVar
HELZ_chr17_67065444_67250196	67123815	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG01243.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0092 a0001c0001t0021g0093 a0001c0001t0021g0092 a0001c0001t0021g0093	2	274	0.0073	18	c.343 others(35): Show c.3439+130_3439+147dupCACACACACACACACACA		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	25/32						chr17	TogoVar
HELZ_chr17_67065444_67250196	67125286	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0038 a0001c0003t0038	a0001c0003t0038g0114 a0001c0003t0038g0114	1	274	0.0037	18	c.338 others(37): Show c.3388-1290_3388-1273dupTATATATATATATATATA		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	24/32						chr17	TogoVar
HELZ_chr17_67065444_67250196	67132218	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03195.hp2 HG01361.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0037 a0001c0001t0013 a0001c0001t0037	a0001c0001t0013g0099 a0001c0001t0037g0005 a0001c0001t0013g0099 a0001c0001t0037g0005	2	274	0.0073	18	c.318 others(37): Show c.3183-3381_3183-3364dupCACACACACACACACACA		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	23/32						chr17	TogoVar
HELZ_chr17_67065444_67250196	67212314	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02818.hp2 HG03098.hp1 others(3): Show HG01981.hp2 HG02818.hp2 HG03098.hp1 HG03491.hp1 NA19000.hp1 NA20905.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0018 a0001c0001 a0010c0018	a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0040 a0010c0018t0001	a0001c0001t0006g0250 a0001c0001t0007g0158 a0001c0001t0007g0159 others(3): Show a0001c0001t0006g0250 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0008g0240 a0001c0001t0040g0259 a0010c0018t0001g0204	6	274	0.0219	18	c.247 others(35): Show c.247+3567_247+3584dupTTTTTTTTTTTTTTTTTT		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	5/32						chr17	TogoVar
HELZ_chr17_67065444_67250196	67243894	T T	TAGCAAAC others(11): Show TAGCAAACATTTTATCAGC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0012 a0001c0001t0043g0012	1	274	0.0037	18	c.-13 others(33): Show c.-131-73_-131-56dupGCTGATAAAATGTTTGCT		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	1/32						chr17	TogoVar
HEMK1_chr3_50564522_50601166	50591663	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG00741.hp2 HG01167.hp1 others(26): Show HG00609.hp2 HG00741.hp2 HG01167.hp1 HG01255.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02300.hp2 HG02602.hp1 HG02735.hp1 HG02886.hp2 HG02976.hp2 HG03540.hp2 NA18957.hp2 NA18967.hp2 NA18977.hp2 NA18978.hp2 NA19054.hp1 NA19064.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0001t0034 a0001c0001t0041 others(13): Show a0001c0001t0022 a0001c0001t0034 a0001c0001t0041 a0001c0001t0049 a0001c0001t0051 a0001c0001t0059 a0001c0001t0067 a0001c0001t0068 a0001c0001t0073 a0001c0002t0006 a0001c0002t0017 a0001c0002t0108 a0001c0002t0118 a0001c0002t0126 a0001c0002t0131 a0001c0002t0133	a0001c0001t0022g0001 a0001c0001t0034g0001 a0001c0001t0041g0001 others(13): Show a0001c0001t0022g0001 a0001c0001t0034g0001 a0001c0001t0041g0001 a0001c0001t0049g0001 a0001c0001t0051g0001 a0001c0001t0059g0001 a0001c0001t0067g0001 a0001c0001t0068g0001 a0001c0001t0073g0003 a0001c0002t0006g0002 a0001c0002t0017g0002 a0001c0002t0108g0002 a0001c0002t0118g0002 a0001c0002t0126g0002 a0001c0002t0131g0002 a0001c0002t0133g0002	29	320	0.0906	18	c.11 others(31): Show c.11263_*11280dupGTGTGTGTGTGTGTGTGT		HEMK1	ENSG00000114735.10	transcript	ENST00000232854.9	protein_coding	11/11				11281	INFO_REALIGN_3_PRIME	chr3	TogoVar
HEPHL1_chr11_94016354_94119208	94042875	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0363 a0004c0004t0001g0363	1	368	0.0027	18	c.171 others(35): Show c.171-2797_171-2780dupAAAAAAAAAAAAAAAAAA		HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94042883	A A	AAAAAAAC others(11): Show AAAAAAACAAAAAACAAAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	368	0.0027	18	c.171 others(35): Show c.171-2784_171-2783insCAAAAAACAAACAAAAAA		HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94078446	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG04184.hp1 HG01167.hp2 HG01169.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0002g0129 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0002g0129	3	368	0.0082	18	c.171 others(37): Show c.1716+3074_1716+3091dupATATATATATATATATAT		HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	9/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94093971	G G	GATAGATA others(11): Show GATAGATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	368	0.0027	18	c.243 others(35): Show c.2434+334_2434+335insGATATATATATATATATA		HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94093971	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02723.hp1 HG03486.hp1 HG01074.hp2 HG02723.hp1 HG03486.hp1	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0001 a0007c0009 a0010c0032 a0001c0001 a0007c0009 a0010c0032	a0001c0001t0007 a0007c0009t0012 a0010c0032t0001 a0001c0001t0007 a0007c0009t0012 a0010c0032t0001	a0001c0001t0007g0017 a0007c0009t0012g0067 a0010c0032t0001g0260 a0001c0001t0007g0017 a0007c0009t0012g0067 a0010c0032t0001g0260	3	368	0.0082	18	c.243 others(35): Show c.2434+357_2434+374dupTATATATATATATATATA		HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94094013	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	368	0.0027	18	c.243 others(35): Show c.2434+374_2434+375insTATATATATATATATAAA		HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94115572	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02129.hp1 HG00423.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0315 a0001c0001t0001g0139 a0001c0001t0001g0315	2	368	0.0054	18	c.36 others(29): Show c.3678_*3679insATATATATATATATATAT		HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding					1365		chr11	TogoVar
HEPH_chrX_66159247_66272389	66160309	A A	ACAGCAGT others(11): Show ACAGCAGTGGTCCTCAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03130.hp1 HG02615.hp2 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0001 a0001c0010t0001 a0001c0003t0001 a0001c0010t0001	a0001c0003t0001g0080 a0001c0010t0001g0079 a0001c0003t0001g0080 a0001c0010t0001g0079	2	218	0.0092	18	c.-41 others(29): Show c.-4175_-4174insCAGCAGTGGTCCTCAAAC		HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding					3937		chrX	TogoVar
HEPH_chrX_66159247_66272389	66200241	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG02886.hp2 others(5): Show HG01891.hp1 HG02630.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03471.hp1 HG03540.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0002c0004t0002	a0001c0002t0001g0022 a0001c0002t0001g0214 a0001c0002t0001g0215 others(5): Show a0001c0002t0001g0022 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0003t0001g0018 a0001c0003t0001g0021 a0001c0003t0002g0012 a0002c0004t0002g0014 a0002c0004t0002g0015	8	218	0.0367	18	c.186 others(35): Show c.1865-284_1865-267dupGTGTGTGTGTGTGTGTGT		HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding	11/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
HERC1_chr15_63603618_63838948	63720103	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0002 a0002c0028t0002	a0002c0028t0002g0016 a0002c0028t0002g0016	1	216	0.0046	18	c.374 others(37): Show c.3743-1207_3743-1206insAAAAAAAAAAAAAAAAAA		HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	19/77						chr15	TogoVar
HERC1_chr15_63603618_63838948	63744110	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0091 a0003c0002t0001g0091	1	216	0.0046	18	c.252 others(37): Show c.2520+2790_2520+2807dupCACACACACACACACACA		HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77						chr15	TogoVar
HERC1_chr15_63603618_63838948	63744164	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG02129.hp2 others(1): Show HG00639.hp1 HG00735.hp1 HG02129.hp2 NA18991.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0025 a0003c0002t0001g0033 a0003c0002t0001g0044 others(1): Show a0003c0002t0001g0025 a0003c0002t0001g0033 a0003c0002t0001g0044 a0003c0002t0001g0052	4	216	0.0185	18	c.252 others(37): Show c.2520+2753_2520+2754insGACACACACACACACACA		HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77						chr15	TogoVar
HERC1_chr15_63603618_63838948	63826806	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	216	0.0046	18	c.-27 others(35): Show c.-27+7020_-27+7021insATATATATATATATATAT		HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77						chr15	TogoVar
HERC1_chr15_63603618_63838948	63829594	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0002 a0002c0019t0002	a0002c0019t0002g0094 a0002c0019t0002g0094	1	216	0.0046	18	c.-27 others(35): Show c.-27+4232_-27+4233insTTATATATATATATATAT		HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77						chr15	TogoVar
HERC2_chr15_28106040_28327179	28279615	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0072 a0004c0072	a0004c0072t0002 a0004c0072t0002	a0004c0072t0002g0242 a0004c0072t0002g0242	1	250	0.0040	18	c.542 others(33): Show c.542+435_542+452dupTGTGTGTGTGTGTGTGTG		HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	5/92						chr15	TogoVar
HERC3_chr4_88587480_88713539	88612289	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0258 a0001c0004t0003g0258	1	296	0.0034	18	c.226 others(35): Show c.226+6261_226+6278dupTGTGTGTGTGTGTGTGTG		HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	3/25					INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC4_chr10_67916905_68080283	68075418	C C	CGGGGGGG others(11): Show CGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0286 a0001c0002t0001g0286	1	360	0.0028	18	c.-38 others(27): Show c.-384_-383insCCCCCCCCCCCCCCCCCC		HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding					136		chr10	TogoVar
HERPUD2_chr7_35627659_35700135	35674404	T T	TATATATA others(11): Show TATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0377 a0002c0002t0002g0377	1	392	0.0026	18	c.148 others(35): Show c.148-1127_148-1126insCTCTCTATATATATATAT		HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8						chr7	TogoVar
HEXA_chr15_72335924_72381014	72340841	T T	TCACACAC others(11): Show TCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp1 others(12): Show HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01192.hp1 HG02615.hp2 HG04115.hp2 NA18945.hp2 NA18961.hp2 NA18963.hp2 NA18979.hp2 NA18993.hp1 NA19009.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0004 a0007c0008 a0001c0001 a0003c0004 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0003c0004t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0004t0009 a0007c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0140 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0002g0002 a0001c0001t0002g0027 a0001c0001t0002g0096 a0001c0001t0002g0143 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0185 a0001c0001t0002g0196 a0003c0004t0009g0035 a0007c0008t0001g0122	15	354	0.0424	18	c.32 others(29): Show c.3235_*3236insTGTGTGTGTGTGTGTGTG		HEXA	ENSG00000213614.11	transcript	ENST00000268097.10	protein_coding					82		chr15	TogoVar
HEXD_chr17_82413347_82447645	82433091	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	400	0.0025	18	c.283 others(33): Show c.283-566_283-565insAAAAAAAAAAAAAAAATA		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82433091	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0174 a0003c0008t0001g0174	1	400	0.0025	18	c.283 others(33): Show c.283-566_283-565insAAAAAAAATATATATATA		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82433091	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	400	0.0025	18	c.283 others(33): Show c.283-566_283-565insAAAAAATATATATATATA		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82433128	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0259 a0002c0010t0001g0259	1	400	0.0025	18	c.283 others(33): Show c.283-529_283-528insATATATATTTTTTTTTTT		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
HEXD_chr17_82413347_82447645	82433128	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0260 a0002c0004t0001g0260	1	400	0.0025	18	c.283 others(33): Show c.283-529_283-528insATATATTTTTTTTTTTTT		HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
HEY1_chr8_79759010_79772767	79769371	A A	ATCTTTTT others(11): Show ATCTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0031	1	460	0.0022	18	c.-17 others(29): Show c.-1709_-1708insAAAAAAAAAAAAAAAAGA		HEY1	ENSG00000164683.19	transcript	ENST00000354724.8	protein_coding					1605		chr8	TogoVar

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