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
HORMAD2_chr22_30075464_30182075	30129237	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp1 HG02055.hp2 others(22): Show HG01243.hp2 HG01496.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03195.hp1 HG03453.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0322 a0001c0001t0001g0323 others(22): Show a0001c0001t0001g0083 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346	25	350	0.0714	-20	c.819 others(37): Show c.819+7025_819+7044delAAAAAAAAAAAAAAAAAAGA		HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30180920	CCCTCTCC others(13): Show CCCTCTCCTCTCCTCTCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	350	0.0029	-20	c.47 others(31): Show c.4754_*4773delCCTCTCCTCTCCTCTCCTCT		HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding					3846		chr22	TogoVar
HOXA3_chr7_27102010_27157583	27121213	CTGTGTGC others(13): Show CTGTGTGCGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01167.hp2 others(12): Show HG00140.hp2 HG00735.hp2 HG01167.hp2 HG01261.hp2 HG01934.hp1 HG02486.hp1 HG02897.hp2 HG02922.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0181 a0001c0001t0002g0182 others(11): Show a0001c0001t0002g0013 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0210 a0001c0001t0002g0211	15	326	0.0460	-20	c.-12 others(39): Show c.-121+1326_-121+1345delCACACACACACACGCACACA		HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5						chr7	TogoVar
HOXA3_chr7_27102010_27157583	27145446	GGTTTTGT others(13): Show GGTTTTGTTTTGTTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02559.hp1 others(9): Show HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0019 a0002c0002t0014 a0001c0001t0005 a0001c0001t0019 a0002c0002t0014	a0001c0001t0005g0015 a0001c0001t0005g0233 a0001c0001t0005g0234 others(7): Show a0001c0001t0005g0015 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0019g0014 a0001c0001t0019g0214 a0002c0002t0014g0215 a0002c0002t0014g0216	12	326	0.0368	-20	c.-49 others(39): Show c.-493-5280_-493-5261delAAAACAAAACAAAACAAAAC		HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	1/5						chr7	TogoVar
HOXA5_chr7_27136052_27148681	27145446	GGTTTTGT others(13): Show GGTTTTGTTTTGTTTTGTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02559.hp1 others(9): Show HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014	a0001c0001t0003g0013 a0001c0001t0004g0009 a0001c0001t0007g0019 others(2): Show a0001c0001t0003g0013 a0001c0001t0004g0009 a0001c0001t0007g0019 a0001c0001t0012g0015 a0001c0001t0014g0022	12	398	0.0302	-20	c.-18 others(31): Show c.-1859_-1840delAAAACAAAACAAAACAAAAC		HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding					1766		chr7	TogoVar
HOXA6_chr7_27140396_27152774	27145446	GGTTTTGT others(13): Show GGTTTTGTTTTGTTTTGTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02559.hp1 others(11): Show HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 NA18994.hp1 NA18994.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0010 a0001c0002t0008 a0001c0001t0008 a0001c0001t0010 a0001c0002t0008	a0001c0001t0008g0023 a0001c0001t0010g0029 a0001c0002t0008g0012 others(1): Show a0001c0001t0008g0023 a0001c0001t0010g0029 a0001c0002t0008g0012 a0001c0002t0008g0035	14	386	0.0363	-20	c.19 others(29): Show c.192_*211delAAAACAAAACAAAACAAAAC		HOXA6	ENSG00000106006.6	transcript	ENST00000222728.3	protein_coding	2/2				192		chr7	TogoVar
HOXB13_chr17_48719763_48733750	48731314	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02145.hp2 HG02572.hp2 others(4): Show HG02040.hp2 HG02145.hp2 HG02572.hp2 HG02647.hp2 HG03471.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0003t0001g0006 a0001c0001t0001g0004 a0001c0003t0001g0006	7	426	0.0164	-20	c.-27 others(31): Show c.-2741_-2722delTTTTTTTTTTTTTTTTTTTT		HOXB13	ENSG00000159184.8	transcript	ENST00000290295.8	protein_coding					2565		chr17	TogoVar
HOXB1_chr17_48523526_48536011	48528181	AAAAAAAA others(13): Show AAAAAAAAGAAAAAGAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	426	0.0024	-20	c.13 others(31): Show c.1346_*1365delCTTTTTCTTTTTCTTTTTTT		HOXB1	ENSG00000120094.9	transcript	ENST00000239174.7	protein_coding					344		chr17	TogoVar
HOXC13_chr12_53933831_53951544	53942154	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02647.hp1 others(1): Show HG02280.hp2 HG02486.hp2 HG02647.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	4	402	0.0100	-20	c.736 others(37): Show c.736+2530_736+2549delTTTTTTTTTTTTTTTTTTTT		HOXC13	ENSG00000123364.5	transcript	ENST00000243056.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr12	TogoVar
HOXC8_chr12_54003985_54017769	54008826	ATCTCTCT others(13): Show ATCTCTCTCTCTCTCTCTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 NA18952.hp1 NA18959.hp1 others(6): Show HG03834.hp2 NA18952.hp1 NA18959.hp1 NA18973.hp1 NA18984.hp1 NA18991.hp2 NA18995.hp1 NA19010.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0056	a0001c0001t0003g0001 a0001c0001t0005g0001 a0001c0001t0013g0001 others(1): Show a0001c0001t0003g0001 a0001c0001t0005g0001 a0001c0001t0013g0001 a0001c0001t0056g0001	9	306	0.0294	-20	c.-45 others(29): Show c.-458_-439delTCTCTCTCTCTCTCTCTCTC		HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding					158		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014004	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	306	0.0033	-20	c.26 others(31): Show c.2624_*2643delTCTCTCTCTCTCTCTCTCTC		HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding					1236		chr12	TogoVar
HP1BP3_chr1_20735266_20792307	20750322	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02683.hp2 HG02896.hp2 others(1): Show HG01074.hp1 HG02683.hp2 HG02896.hp2 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0002 a0001c0001t0005 a0002c0004t0002	a0001c0001t0005g0052 a0001c0001t0005g0053 a0002c0004t0002g0174 others(1): Show a0001c0001t0005g0052 a0001c0001t0005g0053 a0002c0004t0002g0174 a0002c0004t0002g0175	4	378	0.0106	-20	c.982 others(35): Show c.982-460_982-441delGTGTGTGTGTGTGTGTGTGT		HP1BP3	ENSG00000127483.19	transcript	ENST00000438032.6	protein_coding	9/12						chr1	TogoVar
HP1BP3_chr1_20735266_20792307	20750360	CACACACA others(13): Show CACACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0344 a0001c0001t0008g0344	1	378	0.0027	-20	c.982 others(35): Show c.982-498_982-479delTTGTGTGTGTGTGTGTGTGT		HP1BP3	ENSG00000127483.19	transcript	ENST00000438032.6	protein_coding	9/12						chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10312304	CCATCATC others(13): Show CCATCATCATCATCATCATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.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 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 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 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.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0003t0001 a0001c0004t0004 a0001c0005t0004	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(265): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0137 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0288 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0118 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0263 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0299 a0001c0001t0002g0304 a0001c0001t0002g0309 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0003g0087 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0131 a0001c0001t0003g0134 a0001c0001t0003g0141 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0163 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0187 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0207 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0236 a0001c0001t0003g0239 a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0292 a0001c0001t0003g0294 a0001c0001t0003g0298 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0308 a0001c0001t0004g0032 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0074 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0082 a0001c0001t0004g0105 a0001c0001t0004g0112 a0001c0001t0004g0144 a0001c0001t0004g0165 a0001c0001t0004g0191 a0001c0001t0004g0195 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0240 a0001c0001t0004g0305 a0001c0001t0005g0008 a0001c0001t0005g0120 a0001c0001t0005g0161 a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0283 a0001c0001t0005g0295 a0001c0001t0006g0001 a0001c0001t0006g0296 a0001c0001t0007g0293 a0001c0001t0008g0022 a0001c0001t0008g0023 a0001c0001t0008g0026 a0001c0001t0009g0043 a0001c0001t0010g0076 a0001c0001t0010g0224 a0001c0001t0011g0148 a0001c0001t0011g0149 a0001c0001t0012g0150 a0001c0001t0012g0151 a0001c0001t0013g0146 a0001c0001t0014g0145 a0001c0001t0015g0184 a0001c0001t0017g0185 a0001c0001t0018g0291 a0001c0001t0019g0234 a0001c0001t0020g0143 a0001c0001t0021g0147 a0001c0001t0022g0024 a0001c0001t0023g0025 a0001c0003t0001g0274 a0001c0004t0004g0152 a0001c0005t0004g0093	268	314	0.8535	-20	c.-11 others(39): Show c.-111+9152_-111+9171delATCATCATCATCATATCATC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10395113	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(33): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01978.hp1 HG02129.hp1 HG02129.hp2 HG02258.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp2 HG03492.hp1 HG03516.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18906.hp2 NA18944.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18982.hp1 NA18982.hp2 NA18993.hp2 NA18999.hp1 NA19010.hp2 NA19077.hp2 NA19081.hp1 NA19085.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0038 others(33): Show a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0180 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0281 a0001c0001t0001g0297 a0001c0001t0001g0311 a0001c0001t0002g0040 a0001c0001t0002g0203 a0001c0001t0002g0277 a0001c0001t0003g0241	36	314	0.1147	-20	c.-11 others(39): Show c.-110-1695_-110-1676delACACACACACACACACACAC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10403452	TTTTGTGT others(13): Show TTTTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG02257.hp2 others(2): Show HG00639.hp2 HG01070.hp1 HG02257.hp2 HG02717.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0004t0004	a0001c0001t0002g0153 a0001c0001t0002g0289 a0001c0001t0004g0264 others(2): Show a0001c0001t0002g0153 a0001c0001t0002g0289 a0001c0001t0004g0264 a0001c0001t0012g0151 a0001c0004t0004g0152	5	314	0.0159	-20	c.-25 others(37): Show c.-25+6534_-25+6553delTTGTGTGTGTGTGTGTGTGT		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10429492	GTCCCTAG others(13): Show GTCCCTAGGTGGATCGGTTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	314	0.0032	-20	c.26 others(31): Show c.2672_*2691delTCCCTAGGTGGATCGGTTGA		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding					1889		chr2	TogoVar
HPD_chr12_121834527_121863859	121834987	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	406	0.0025	-20	c.47 others(31): Show c.4721_*4740delGAAAGAAAGAAAGAAAGAAA		HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding					4539		chr12	TogoVar
HPGDS_chr4_94293535_94347836	94340293	CTTTCTTT others(13): Show CTTTCTTTCTTTCTTTCTCTT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0286 a0003c0004t0007g0286	1	312	0.0032	-20	c.-10 others(37): Show c.-10+2482_-10+2501delAAGAGAAAGAAAGAAAGAAA		HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5						chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340297	CTTTCTTT others(13): Show CTTTCTTTCTTTCTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	312	0.0032	-20	c.-10 others(37): Show c.-10+2478_-10+2497delAAAAAAGAGAAAGAAAGAAA		HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5						chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340301	CTTTCTTT others(13): Show CTTTCTTTCTCTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	312	0.0032	-20	c.-10 others(37): Show c.-10+2474_-10+2493delAAAAAAAAAAGAGAAAGAAA		HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5						chr4	TogoVar
HPRT1_chrX_134455165_134505668	134481505	CTCTATCT others(13): Show CTCTATCTATCTATCTATCTA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	276	0.0036	-20	c.319 others(37): Show c.319-4923_319-4904delTCTATCTATCTATCTATCTA		HPRT1	ENSG00000165704.15	transcript	ENST00000298556.8	protein_coding	3/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
HPS4_chr22_26445882_26488783	26451994	GCGCGCGC others(13): Show GCGCGCGCGCGCACACACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0070 a0004c0009t0070	a0004c0009t0070g0090 a0004c0009t0070g0090	1	404	0.0025	-20	c.12 others(31): Show c.1219_*1238delTGTGTGTGTGCGCGCGCGCG		HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	14/14				1219		chr22	TogoVar
HPS4_chr22_26445882_26488783	26451998	GCGCGCGC others(13): Show GCGCGCGCACACACACACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0047 a0003c0003t0047	a0003c0003t0047g0065 a0003c0003t0047g0065	1	404	0.0025	-20	c.12 others(31): Show c.1215_*1234delTGTGTGTGTGTGTGCGCGCG		HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	14/14				1215		chr22	TogoVar
HPS4_chr22_26445882_26488783	26452000	GCGCGCAC others(13): Show GCGCGCACACACACACACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp2 HG01167.hp2 HG02896.hp2 others(1): Show HG01099.hp2 HG01167.hp2 HG02896.hp2 HG02897.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0030 a0003c0003t0039 a0003c0003t0030 a0003c0003t0039	a0003c0003t0030g0029 a0003c0003t0039g0268 a0003c0003t0039g0269 a0003c0003t0030g0029 a0003c0003t0039g0268 a0003c0003t0039g0269	4	404	0.0099	-20	c.12 others(31): Show c.1213_*1232delTGTGTGTGTGTGTGTGCGCG		HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	14/14				1213		chr22	TogoVar
HPS4_chr22_26445882_26488783	26452004	GCACACAC others(13): Show GCACACACACACACACACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0046 a0003c0003t0046	a0003c0003t0046g0273 a0003c0003t0046g0273	1	404	0.0025	-20	c.12 others(31): Show c.1209_*1228delTGTGTGTGTGTGTGTGTGTG		HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	14/14				1209		chr22	TogoVar
HPSE2_chr10_98452077_99240852	98729741	GAGGCATT others(13): Show GAGGCATTTTATAATGATAAA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01361.hp1 HG02129.hp2 others(6): Show HG01255.hp2 HG01361.hp1 HG02129.hp2 HG02135.hp2 HG02523.hp1 HG02809.hp1 NA18747.hp1 NA18966.hp1 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0002c0002t0002	a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0065 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0003g0069 a0001c0001t0004g0070 a0001c0001t0016g0124 a0002c0002t0002g0043 a0002c0002t0002g0068	9	142	0.0634	-20	c.785 others(37): Show c.785-7933_785-7914delTTTATCATTATAAAATGCCT		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	4/11						chr10	TogoVar
HPSE2_chr10_98452077_99240852	99072927	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp2 HG01884.hp1 others(13): Show HG00323.hp2 HG01255.hp2 HG01884.hp1 HG01928.hp1 HG01993.hp1 HG02257.hp1 HG02895.hp1 HG02965.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18944.hp2 NA18965.hp2 NA18968.hp2 NA18982.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0002c0002t0002 a0002c0002t0010	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 others(13): Show a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0003g0026 a0001c0001t0005g0027 a0001c0001t0016g0025 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0022 a0002c0002t0002g0028 a0002c0002t0002g0121 a0002c0002t0002g0123 a0002c0002t0010g0021	16	142	0.1127	-20	c.610 others(39): Show c.610+71291_610+71310delTTTTTTTTTTTTTTTTTTTT		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11						chr10	TogoVar
HPSE2_chr10_98452077_99240852	99112415	GTGTTTTG others(13): Show GTGTTTTGTTTTGTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0126 a0002c0002t0002g0126	1	142	0.0070	-20	c.610 others(39): Show c.610+31803_610+31822delAAACAAAACAAAACAAAACA		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11						chr10	TogoVar
HPSE2_chr10_98452077_99240852	99164227	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG04184.hp2 NA18966.hp2 HG02622.hp2 HG04184.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0024 a0001c0001t0001 a0001c0001t0005 a0001c0001t0024	a0001c0001t0001g0137 a0001c0001t0005g0066 a0001c0001t0024g0132 a0001c0001t0001g0137 a0001c0001t0005g0066 a0001c0001t0024g0132	3	142	0.0211	-20	c.449 others(39): Show c.449-19848_449-19829delTATATATATATATATATATA		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11						chr10	TogoVar
HPSE2_chr10_98452077_99240852	99169504	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp1 others(33): Show HG00099.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG01109.hp2 HG01167.hp1 HG01361.hp2 HG01981.hp2 HG02055.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02273.hp2 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02897.hp1 HG03654.hp2 HG03710.hp2 NA18939.hp1 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18962.hp2 NA18966.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA19003.hp1 NA19009.hp2 NA19083.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0022 a0001c0001t0032 a0002c0002t0002 a0002c0002t0010 a0002c0002t0013 a0002c0002t0018 a0002c0002t0019 a0003c0003t0003 a0005c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0034 others(33): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0004g0064 a0001c0001t0004g0088 a0001c0001t0005g0091 a0001c0001t0008g0030 a0001c0001t0009g0057 a0001c0001t0009g0122 a0001c0001t0017g0053 a0001c0001t0017g0054 a0001c0001t0022g0035 a0001c0001t0032g0142 a0002c0002t0002g0029 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0050 a0002c0002t0010g0042 a0002c0002t0010g0056 a0002c0002t0013g0046 a0002c0002t0013g0063 a0002c0002t0018g0044 a0002c0002t0019g0089 a0003c0003t0003g0090 a0005c0005t0001g0085	36	142	0.2535	-20	c.449 others(39): Show c.449-25125_449-25106delTTTTTTTTTTTTTTTTTTTT		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11						chr10	TogoVar
HPSE2_chr10_98452077_99240852	99184522	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	142	0.0070	-20	c.449 others(39): Show c.449-40143_449-40124delTTTTTTTTTTTTTTTTTTTT		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11						chr10	TogoVar
HRC_chr19_49146198_49160396	49157056	CCCCTCTC others(13): Show CCCCTCTCTCTGGGTCTCTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	-20	c.-18 others(31): Show c.-1839_-1820delACAGAGACCCAGAGAGAGGG		HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding					1661		chr19	TogoVar
HRH1_chr3_11149493_11268557	11180948	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	352	0.0028	-20	c.-36 others(39): Show c.-36+26427_-36+26446delACACACACACACACACACAC		HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH2_chr5_175653071_175715756	175656303	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02886.hp2 HG03471.hp2 others(2): Show HG02622.hp2 HG02886.hp2 HG03471.hp2 HG03579.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0051 a0001c0003t0018	a0001c0001t0001g0186 a0001c0001t0004g0040 a0001c0001t0012g0103 others(2): Show a0001c0001t0001g0186 a0001c0001t0004g0040 a0001c0001t0012g0103 a0001c0001t0051g0109 a0001c0003t0018g0201	5	264	0.0189	-20	c.-23 others(31): Show c.-2377_-2358delAAATAAATAAATAAATAAAT		HRH2	ENSG00000113749.8	transcript	ENST00000636584.2	protein_coding					1767		chr5	TogoVar
HRH3_chr20_62209960_62225278	62213236	GGGGGAAG others(13): Show GGGGGAAGGGAGAGCAGGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 NA19043.hp2 HG02258.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0018 a0001c0003t0004g0018	2	368	0.0054	-20	c.27 others(31): Show c.2750_*2769delATCCCTGCTCTCCCTTCCCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1723		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213586	GTGGGGGA others(13): Show GTGGGGGAAGGAGAGCGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG06807.hp2 HG02486.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0003 a0001c0002t0005 a0001c0003t0003	a0001c0002t0005g0022 a0001c0003t0003g0031 a0001c0002t0005g0022 a0001c0003t0003g0031	2	368	0.0054	-20	c.24 others(31): Show c.2400_*2419delTCCCCGCTCTCCTTCCCCCA		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1373		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213594	AGGAGAGC others(13): Show AGGAGAGCGGGGATGGGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG01358.hp2 others(10): Show HG00438.hp1 HG00735.hp1 HG01358.hp2 HG03195.hp2 HG03492.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp1 NA18971.hp2 NA18975.hp2 NA18986.hp1 NA18994.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0007g0042 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0007g0042 a0001c0002t0001g0002 a0001c0003t0001g0003	13	368	0.0353	-20	c.23 others(31): Show c.2392_*2411delCTCCCCCATCCCCGCTCTCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1365		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213715	GGGGGAAG others(13): Show GGGGGAAGGGAGAGCAGGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	368	0.0027	-20	c.22 others(31): Show c.2271_*2290delATCCCTGCTCTCCCTTCCCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1244		chr20	TogoVar
HRK_chr12_116851144_116886441	116854847	AACACACA others(13): Show AACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG03471.hp1 HG02572.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0116 a0001c0001t0014 a0001c0001t0116	a0001c0001t0014g0194 a0001c0001t0116g0224 a0001c0001t0014g0194 a0001c0001t0116g0224	2	366	0.0055	-20	c.66 others(31): Show c.6656_*6675delGTGTGTGTGTGTGTGTGTGT		HRK	ENSG00000135116.9	transcript	ENST00000257572.5	protein_coding					1296		chr12	TogoVar
HRNR_chr1_152207076_152229193	152218966	CCAGATCC others(13): Show CCAGATCCAGAGCCATGTCGG	C C	frameshift_variant frameshift_variant	HIGH	HG03654.hp2 NA20905.hp2 HG03654.hp2 NA20905.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0003 a0001c0038t0003	a0001c0038t0003g0041 a0001c0038t0003g0041	2	418	0.0048	-20	c.264 others(29): Show c.2643_2662delCCGACATGGCTCTGGATCTG	p.Arg others(5): Show p.Arg882fs	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	2738/9629	2643/8553	881/2850			chr1	TogoVar
HR_chr8_22109419_22136010	22111350	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0138 a0001c0001t0014g0138	1	408	0.0025	-20	c.43 others(31): Show c.4330_*4349delCACACACACACACACACACA		HR	ENSG00000168453.16	transcript	ENST00000381418.9	protein_coding					3068		chr8	TogoVar
HS2ST1_chr1_86909635_87114982	86985509	CATATATA others(13): Show CATATATATACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02965.hp2 HG02615.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0001t0001g0081 a0001c0001t0001g0115	2	154	0.0130	-20	c.124 others(39): Show c.124+70351_124+70370delTATATATACACATATATATA		HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
HS2ST1_chr1_86909635_87114982	87010756	CTGTTTTG others(13): Show CTGTTTTGTTTTGTTTTGTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01891.hp1 others(8): Show HG00741.hp1 HG00741.hp2 HG01891.hp1 HG02486.hp1 HG02717.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp1 HG03831.hp2 NA18975.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0029	a0001c0001t0001g0068 a0001c0001t0001g0100 a0001c0001t0002g0008 others(8): Show a0001c0001t0001g0068 a0001c0001t0001g0100 a0001c0001t0002g0008 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0011g0105 a0001c0001t0011g0106 a0001c0001t0011g0107 a0001c0001t0011g0108 a0001c0001t0011g0109 a0001c0001t0029g0118	11	154	0.0714	-20	c.125 others(39): Show c.125-62145_125-62126delTTTTGTTTTGTTTTGTTTTG		HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
HS3ST2_chr16_22809162_22921338	22819094	CCCTCCCT others(13): Show CCCTCCCTCCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02109.hp2 HG02486.hp2 others(9): Show HG01496.hp2 HG02109.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0003t0003 a0001c0003t0015 others(2): Show a0001c0001t0001 a0001c0003t0003 a0001c0003t0015 a0001c0005t0002 a0001c0006t0006	a0001c0001t0001g0146 a0001c0003t0003g0024 a0001c0003t0003g0027 others(9): Show a0001c0001t0001g0146 a0001c0003t0003g0024 a0001c0003t0003g0027 a0001c0003t0003g0028 a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0015g0032 a0001c0005t0002g0060 a0001c0006t0006g0023 a0001c0006t0006g0025 a0001c0006t0006g0026 a0001c0006t0006g0031	12	350	0.0343	-20	c.485 others(37): Show c.485+4003_485+4022delCCCTCCCTTCCTTCCTTCCT		HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST3A1_chr17_13489032_13606929	13526472	TTTTATAT others(13): Show TTTTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp1 HG02572.hp1 HG03098.hp1	a0001 a0001	a0001c0006 a0001c0017 a0001c0006 a0001c0017	a0001c0006t0042 a0001c0017t0038 a0001c0006t0042 a0001c0017t0038	a0001c0006t0042g0003 a0001c0017t0038g0002 a0001c0006t0042g0003 a0001c0017t0038g0002	2	338	0.0059	-20	c.600 others(39): Show c.600-29674_600-29655delTATATATATATATATATAAA		HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1						chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13534547	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0184 a0001c0001t0068g0184	1	338	0.0030	-20	c.600 others(39): Show c.600-37749_600-37730delTTTTTTTTTTTTTTTTTTTT		HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1						chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25789403	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01934.hp2 HG02615.hp1 others(2): Show HG01346.hp2 HG01934.hp2 HG02615.hp1 NA18968.hp2 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0003 a0003c0004t0003	a0001c0001t0001g0110 a0001c0001t0004g0090 a0002c0002t0003g0036 others(2): Show a0001c0001t0001g0110 a0001c0001t0004g0090 a0002c0002t0003g0036 a0002c0002t0003g0075 a0003c0004t0003g0163	5	164	0.0305	-20	c.734 others(39): Show c.734+96300_734+96319delCTTCCTTCCTTCCTTCCTTC		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25802925	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0068	1	164	0.0061	-20	c.734 others(41): Show c.734+109776_734+109795delATGTGTGTGTGTGTGTGTGT		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25820010	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG01167.hp1 others(4): Show HG00642.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01516.hp2 HG01993.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0042 a0006c0008t0001	a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0127 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0127 a0001c0001t0003g0065 a0001c0001t0006g0007 a0001c0001t0042g0085 a0006c0008t0001g0074	7	164	0.0427	-20	c.734 others(41): Show c.734+126879_734+126898delAAAAAAAAAAAAAAAAAAAA		HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr16	TogoVar

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