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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNTN6_chr3_1088024_1409217	1245219	TATATATA others(69): Show TATATATATATATATATACACACACACATATATATATAACATATATATAT ATATATACACACACATATATATATAAC	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0077 a0001c0003t0001g0077	1	232	0.0043	-76	c.358 others(95): Show c.358+17244_358+17319delCACACACACATATATATATAACATAT ATATATATATATACACACACATATATATATAACATATATATATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTRL_chr9_121069955_121182610	121092467	AATATATA others(69): Show AATATATATCTATATATATAATATATATCTATATATATAATATATATCTA TATATATAATATATATCTATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00735.hp2 others(34): Show HG00099.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01106.hp1 HG01192.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp2 HG02040.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 NA18522.hp2 NA18971.hp2 NA19012.hp2 NA19030.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0010 a0011 others(2): Show a0001 a0010 a0011 a0016 a0021	a0001c0001 a0001c0005 a0001c0009 others(5): Show a0001c0001 a0001c0005 a0001c0009 a0001c0032 a0010c0015 a0011c0014 a0016c0031 a0021c0034	a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 others(5): Show a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 a0001c0032t0001 a0010c0015t0001 a0011c0014t0001 a0016c0031t0001 a0021c0034t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0147 others(29): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0005t0001g0015 a0001c0005t0001g0174 a0001c0009t0001g0013 a0001c0009t0001g0155 a0001c0009t0001g0156 a0001c0032t0001g0190 a0010c0015t0001g0148 a0010c0015t0001g0157 a0011c0014t0001g0169 a0016c0031t0001g0154 a0021c0034t0001g0168	37	330	0.1121	-76	c.348 others(93): Show c.348+2175_349-2233delTAATATATATCTATATATATAATATATA TCTATATATATTATATATATCTATATATATAATATATATCTATATATA	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTRL_chr9_121069955_121182610	121092666	ATATATAT others(69): Show ATATATATAATATATATCTATATATATAATATATATCTATATATATAATA TATATCTATATATATATAATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG03130.hp2 HG01891.hp1 HG02809.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0218 a0002c0006t0001g0023 a0002c0006t0001g0024 a0001c0001t0001g0218 a0002c0006t0001g0023 a0002c0006t0001g0024	3	330	0.0091	-76	c.349 others(93): Show c.349-2195_349-2120delAATATATATCTATATATATAATATATAT CTATATATATATAATATATATCTATATATAATATATATCTATATATAT	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COG1_chr17_73188055_73213507	73192850	GCCCCCTC others(69): Show GCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTC GCGCCCGCCCCCTCGCGCCCGCCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 NA18969.hp2 NA19057.hp1 HG02074.hp1 NA18969.hp2 NA19057.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0022 a0002c0001t0001g0076 a0002c0001t0001g0022 a0002c0001t0001g0076	3	428	0.0070	-76	c.-21 others(85): Show c.-219_-144delCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCG CGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		204		chr17	TogoVar
COL18A1_chr21_45400165_45518720	45437558	ACACAGAC others(69): Show ACACAGACACAGGCACTCTCCTGTACACACACACACTCACACACTCAGAC ACACAGGCACTCTCCTGCACACACACT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02647.hp1 HG02965.hp2 others(1): Show HG01167.hp2 HG02647.hp1 HG02965.hp2 NA18522.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0009 a0001c0011t0001g0016 a0001c0011t0001g0017 others(1): Show a0001c0011t0001g0009 a0001c0011t0001g0016 a0001c0011t0001g0017 a0001c0011t0001g0050	4	292	0.0137	-76	c.107 others(95): Show c.107-30679_107-30604delGACACAGGCACTCTCCTGTACACACA CACACTCACACACTCAGACACACAGGCACTCTCCTGCACACACACTCACA	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45438096	TCACACTC others(69): Show TCACACTCACACTCAGACACACAGGCACTCTCCTGCACACACACACTCAC TCAGACACAGGCACTCTCCTGCATACA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	292	0.0034	-76	c.107 others(95): Show c.107-30096_107-30021delTCAGACACAGGCACTCTCCTGCATAC ACACACTCACACTCAGACACACAGGCACTCTCCTGCACACACACACTCAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45496113	CTCCAAGC others(69): Show CTCCAAGCCCTCCATGCTGGGGGTTCTCCCGCTCAGCCCAAAGGTGTCCA CTCTGCTGTCTTTTGAGCCAAGAGCTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0021 a0001c0022t0001g0021	1	292	0.0034	-76	c.250 others(93): Show c.2509-385_2509-310delCCAAGCCCTCCATGCTGGGGGTTCTCCC GCTCAGCCCAAAGGTGTCCACTCTGCTGTCTTTTGAGCCAAGAGCTTT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	29/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178358232	ATGTGTGT others(69): Show ATGTGTGTATGTGTATGTGTGTGTATGTATATGTGTGTATATGTGTGTAT GCGTGTGCGTATATGTATGTATGTATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0062 a0004c0006t0003g0062	1	236	0.0042	-76	c.362 others(95): Show c.362-51389_362-51314delCATACATACATACATATACGCACACG CATACACACATATACACACATATACATACACACACATACACATACACACA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101489655	TTCTTTCT others(69): Show TTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTT CTTTCTTTCATTCTTTCTTTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03017.hp1 others(1): Show HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0005 a0002c0003t0001 a0001c0005t0005 a0002c0003t0001	a0001c0005t0005g0106 a0002c0003t0001g0091 a0002c0003t0001g0130 others(1): Show a0001c0005t0005g0106 a0002c0003t0001g0091 a0002c0003t0001g0130 a0002c0003t0001g0143	4	174	0.0230	-76	c.385 others(95): Show c.385+41876_385+41951delTCCTTCCTTCCTTCCTTCCTTTCTTT CTTTCTTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489663	TCCTTCCT others(69): Show TCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTT CATTCTTTCTTTCTCTCTCTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0158 a0002c0003t0001g0158	1	174	0.0058	-76	c.385 others(95): Show c.385+41877_385+41952delCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCTC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12			chr7	TogoVar
COL5A1_chr9_134636803_134849843	134788268	GTGGATGA others(69): Show GTGGATGAATGGATGGGTGGGCAGGTAAGTAGACAGGTCGATGAATGGAG GGGTGGGTTTATAGGTAGGCAAATCGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03453.hp2 NA19043.hp1 HG01891.hp1 HG03453.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0044 a0001c0001 a0001c0009 a0001c0044	a0001c0001t0004 a0001c0009t0023 a0001c0044t0057 a0001c0001t0004 a0001c0009t0023 a0001c0044t0057	a0001c0001t0004g0102 a0001c0009t0023g0263 a0001c0044t0057g0042 a0001c0001t0004g0102 a0001c0009t0023g0263 a0001c0044t0057g0042	3	272	0.0110	-76	c.264 others(93): Show c.2647-849_2647-774delCGATGAATGGAGGGGTGGGTTTATAGGT AGGCAAATCGATGGATGAATGGATGGGTGGGCAGGTAAGTAGACAGGT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	31/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COP1_chr1_175939831_176212286	176132732	CTATATAT others(69): Show CTATATATACACACATATACACATATGTACGTATATATACTATATATACA CACATATACACATATGTACGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01074.hp2 others(23): Show HG00099.hp2 HG00741.hp1 HG01074.hp2 HG01109.hp1 HG01175.hp2 HG01261.hp2 HG01978.hp2 HG02486.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG03098.hp2 HG03225.hp1 HG03704.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0151 others(23): Show a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0184 a0001c0001t0001g0197 a0001c0001t0001g0213 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0001t0003g0293 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0004g0271 a0001c0001t0004g0272	26	300	0.0867	-76	c.968 others(93): Show c.968+2202_968+2277delATATATACGTACATATGTGTATATGTGT GTATATATAGTATATATACGTACATATGTGTATATGTGTGTATATATA	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
COQ8A_chr1_226935294_226992544	226978202	TGCACACC others(69): Show TGCACACCTCCTTACACACCCTCTACACACCCACCACACACACCTGCTTA CACAGCCTCCGCACCCACTGAACACCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00438.hp1 others(47): Show HG00099.hp2 HG00408.hp2 HG00438.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01070.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01981.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02165.hp2 HG02257.hp2 HG02451.hp2 HG02602.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp1 NA18948.hp1 NA18960.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp2 NA18985.hp1 NA18989.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19056.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0003c0005t0005	a0001c0001t0001g0100 a0001c0001t0002g0284 a0001c0001t0004g0008 others(42): Show a0001c0001t0001g0100 a0001c0001t0002g0284 a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0059 a0001c0001t0004g0086 a0001c0001t0004g0106 a0001c0002t0003g0007 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0036 a0001c0002t0003g0044 a0001c0002t0003g0095 a0001c0002t0003g0101 a0001c0002t0003g0207 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0236 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0252 a0001c0002t0003g0302 a0001c0002t0003g0312 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0003g0315 a0003c0005t0005g0370 a0003c0005t0005g0371 a0003c0005t0005g0373 a0003c0005t0005g0374 a0003c0005t0005g0375 a0003c0005t0005g0376 a0003c0005t0005g0377	50	412	0.1214	-76	c.730 others(91): Show c.730+702_730+777delTACACACCCACCACACACACCTGCTTACAC AGCCTCCGCACCCACTGAACACCCGCACACCTCCTTACACACCCTC	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COX16_chr14_70320081_70364683	70331741	TGATACAA others(69): Show TGATACAACACCCTATAATCTAGCAATTCCTTTTTGTACATGTACAGGAG AAAAGCATACAAGAATGGGAATGTTCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(296): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.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 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(227): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0171 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0234 a0001c0001t0001g0267 a0001c0001t0001g0284 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0003g0018 a0001c0001t0003g0282 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0004g0036 a0001c0001t0004g0195 a0001c0001t0006g0121 a0001c0001t0007g0158 a0001c0001t0008g0200 a0001c0001t0009g0149 a0001c0001t0010g0161 a0001c0001t0011g0190 a0002c0002t0001g0044	299	376	0.7952	-76	c.142 others(93): Show c.142-2581_142-2506delTGAACATTCCCATTCTTGTATGCTTTTC TCCTGTACATGTACAAAAAGGAATTGCTAGATTATAGGGTGTTGTATC	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	2/3			chr14	TogoVar
CPLX1_chr4_779957_831129	789989	GGTTCCCC others(69): Show GGTTCCCCCACCCCAACAGGTGGCCACGCCTGAGGGCGGGGTTCCCCCAC CCCCCAAAGGCCACGCCTGAGGGCAGC	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	416	0.0024	-76	c.207 others(93): Show c.207+2368_207+2443delGCTGCCCTCAGGCGTGGCCTTTGGGGGG TGGGGGAACCCCGCCCTCAGGCGTGGCCACCTGTTGGGGTGGGGGAAC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	3/3			chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587811	CCCGTGTC others(69): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCA CAGATACACGGCCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18970.hp1 HG02155.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0005t0002 a0001c0002t0003 a0001c0005t0002	a0001c0002t0003g0192 a0001c0005t0002g0310 a0001c0002t0003g0192 a0001c0005t0002g0310	2	348	0.0058	-76	c.927 others(91): Show c.927+711_927+786delCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRACR2A_chr12_3610328_3758109	3747848	GCCCAGAA others(69): Show GCCCAGAAGGGCACAGAGCTCCACAGGCTCAGGGGTGCACCCAGAAGGGC ACAGAGTTCCACAGGCTCAGGGGTACA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0009 a0004c0004t0004g0009	1	320	0.0031	-76	c.-38 others(95): Show c.-387+5091_-387+5166delTGTACCCCTGAGCCTGTGGAACTCTG TGCCCTTCTGGGTGCACCCCTGAGCCTGTGGAGCTCTGTGCCCTTCTGGG	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CSF2RA_chrX_1263814_1314935	1314243	CCACTGCA others(69): Show CCACTGCACCTGCCCAACCCCACTGCGCCTGCCCAACCCCACTGCATCTG CCCAACCACTCTGTGCCTGCCCAACCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	159	0.0063	-76	c.47 others(87): Show c.4765_*4840delCACTGCACCTGCCCAACCCCACTGCGCCTGCCCA ACCCCACTGCATCTGCCCAACCACTCTGTGCCTGCCCAACCA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4309		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314375	CACTCTGT others(69): Show CACTCTGTGCCTGCCCAACCACACTGCACCTGCCTAACCGTACTGCACCT GCCCAACCGCACTGCACTTGCCCAATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0005 a0002c0003t0002g0005	1	159	0.0063	-76	c.48 others(87): Show c.4897_*4972delACTCTGTGCCTGCCCAACCACACTGCACCTGCCT AACCGTACTGCACCTGCCCAACCGCACTGCACTTGCCCAATT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4441		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314421	ACCTGCCC others(69): Show ACCTGCCCAACCGCACTGCACTTGCCCAATTGCACTGCACCTGCCCAACC CCAATGCACCTACCCAACCCCACTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0135 a0001c0002t0005g0135	1	159	0.0063	-76	c.49 others(87): Show c.4943_*5018delCCTGCCCAACCGCACTGCACTTGCCCAATTGCAC TGCACCTGCCCAACCCCAATGCACCTACCCAACCCCACTGTG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4487		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314611	ACCTGCCC others(69): Show ACCTGCCCAACCACACTGAACCTGCTCAACCCCACTTCACCTGCCCAACT GCACTGCACTTGCCCAACCCCTCTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	159	0.0063	-76	c.51 others(87): Show c.5133_*5208delCCTGCCCAACCACACTGAACCTGCTCAACCCCAC TTCACCTGCCCAACTGCACTGCACTTGCCCAACCCCTCTGTG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4677		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314623	ACACTGAA others(69): Show ACACTGAACCTGCTCAACCCCACTTCACCTGCCCAACTGCACTGCACTTG CCCAACCCCTCTGTGCCTGCCCAACCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG03041.hp1 NA18954.hp2 others(5): Show HG02165.hp2 HG03041.hp1 NA18954.hp2 NA18961.hp1 NA18966.hp2 NA19064.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0005 a0001c0001t0001 a0001c0001t0002 a0001c0002t0005	a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0048 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0001g0092 a0001c0001t0002g0031 a0001c0002t0005g0040 a0001c0002t0005g0135	8	159	0.0503	-76	c.51 others(87): Show c.5145_*5220delCACTGAACCTGCTCAACCCCACTTCACCTGCCCA ACTGCACTGCACTTGCCCAACCCCTCTGTGCCTGCCCAACCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4689		chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666964	AAAGAAAG others(69): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG04204.hp1 NA18941.hp1 HG02056.hp1 HG04204.hp1 NA18941.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0002c0003 a0001c0002 a0001c0007 a0002c0003	a0001c0002t0007 a0001c0007t0021 a0002c0003t0003 a0001c0002t0007 a0001c0007t0021 a0002c0003t0003	a0001c0002t0007g0142 a0001c0007t0021g0030 a0002c0003t0003g0105 a0001c0002t0007g0142 a0001c0007t0021g0030 a0002c0003t0003g0105	3	238	0.0126	-76	c.-39 others(97): Show c.-391-65175_-391-65100delCCTTCCTTCCTTCCTTCCTTCCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4761836	CATCTATC others(69): Show CATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA TCTACCTACCTATCTATCTATCTATCA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0031 a0001c0043t0031	a0001c0043t0031g0044 a0001c0043t0031g0044	1	126	0.0079	-76	c.86- others(95): Show c.86-124354_86-124279delTGATAGATAGATAGATAGGTAGGTAG ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542596	ATATATAT others(69): Show ATATATATATATATATATATATATATATATATATATATATATATGTATAT ATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	390	0.0026	-76	c.230 others(93): Show c.230+7403_230+7478delCATATATATATATATATATATATATATA TATACATATATATATATATATATATATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542622	ATATATAT others(69): Show ATATATATATATATATATGTATATATATATATATATATATATATATATAT GTATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03486.hp1 HG02486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0104 a0001c0001t0018g0099 a0001c0001t0001g0104 a0001c0001t0018g0099	2	390	0.0051	-76	c.230 others(93): Show c.230+7377_230+7452delAAAAAATATATATATATATATATATACA TATATATATATATATATATATATATATATACATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CTDP1_chr18_79674803_79759503	79691843	TGGGGAGG others(69): Show TGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTG GACGGCTCCCAGGGTGGACTTGGGGTG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA20300.hp2 HG01255.hp2 NA20300.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0085 a0001c0018t0001g0086 a0001c0018t0001g0085 a0001c0018t0001g0086	2	378	0.0053	-76	c.315 others(93): Show c.315-3312_315-3237delTGGGGTGGGGGAGGAGTGGACGGCTCCC AGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CUL4A_chr13_113204613_113272108	113260146	GTGAGCCG others(69): Show GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGAC TCCGTCTCAAAAAAAAAAAAAAAACCA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0348 a0001c0001t0005g0348	1	396	0.0025	-76	c.203 others(93): Show c.2032-459_2032-384delGAGCCGAGATCGCGCCACTGCACTCCAG CCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAACCAT	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CXorf51A_chrX_146809106_146819744	146812222	TATACGTA others(69): Show TATACGTATATACACATGTGTATATACGTATATACACATATATGTATATA CACACATATATACACACACATATGTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	-76	c.19 others(87): Show c.1909_*1984delGTACATATGTGTGTGTATATATGTGTGTATATAC ATATATGTGTATATACGTATATACACATGTGTATATACGTAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1883		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812222	TATACGTA others(69): Show TATACGTATATACACATGTGTATATACGTATATACACATATATGTATATA CACACATATATACACACACATATGTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	-76	c.19 others(87): Show c.1915_*1990delATACGTATATACACATGTGTATATACGTATATAC ACATATATGTATATACACACATATATACACACACATATGTAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1812		chrX	TogoVar
CYP2A7_chr19_40870439_40887231	40885670	ACCAGGCT others(69): Show ACCAGGCTTTGTGGTGTGTATGTTTGTGCTTGATAATGGGTATCCATTCC AACTTATGTCTGCACATGCACATGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0035 a0002c0003t0001g0035	1	398	0.0025	-76	c.-35 others(87): Show c.-3536_-3461delACACATGTGCATGTGCAGACATAAGTTGGAATGG ATACCCATTATCAAGCACAAACATACACACCACAAAGCCTGG	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding		3440		chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15673875	TAACTCAC others(69): Show TAACTCACTCATTCCTCTACCCACTCACTCCTCTACCCACTCACTCACTC CTCTACCCACTCACTCACTCCTCTACC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01515.hp1 NA18953.hp2 others(4): Show HG01099.hp2 HG01515.hp1 NA18953.hp2 NA18968.hp2 NA18978.hp1 NA19002.hp1 NA21309.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0015 a0002c0002 a0010c0015	a0002c0002t0001 a0010c0015t0001 a0002c0002t0001 a0010c0015t0001	a0002c0002t0001g0004 a0002c0002t0001g0024 a0002c0002t0001g0132 others(1): Show a0002c0002t0001g0004 a0002c0002t0001g0024 a0002c0002t0001g0132 a0010c0015t0001g0204	7	410	0.0171	-76	c.198 others(91): Show c.198+149_198+224delAACTCACTCATTCCTCTACCCACTCACTCC TCTACCCACTCACTCACTCCTCTACCCACTCACTCACTCCTCTACC	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12			chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15674247	CCACTCAC others(69): Show CCACTCACACATTGCCCTCCTCACTCACTCATTCCTCTCCTCACTCACTC ATTCCCCTCCTCACTCATTCCTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02615.hp1 others(5): Show HG02257.hp2 HG02486.hp1 HG02615.hp1 HG02723.hp2 HG02818.hp2 HG03486.hp1 HG03540.hp1 NA19030.hp2	a0005 a0012 a0014 a0005 a0012 a0014	a0005c0007 a0012c0022 a0014c0021 a0005c0007 a0012c0022 a0014c0021	a0005c0007t0004 a0012c0022t0007 a0014c0021t0004 a0005c0007t0004 a0012c0022t0007 a0014c0021t0004	a0005c0007t0004g0207 a0005c0007t0004g0208 a0005c0007t0004g0209 others(5): Show a0005c0007t0004g0207 a0005c0007t0004g0208 a0005c0007t0004g0209 a0005c0007t0004g0210 a0005c0007t0004g0211 a0005c0007t0004g0212 a0012c0022t0007g0205 a0014c0021t0004g0206	8	410	0.0195	-76	c.198 others(91): Show c.198+528_198+603delACATTGCCCTCCTCACTCACTCATTCCTCT CCTCACTCACTCATTCCCCTCCTCACTCATTCCTCTCCTCACTCAC	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDR2_chr1_162627464_162792405	162689189	CAACAGCA others(69): Show CAACAGCACTCTGTCATGCAGCTGAAGTTATGGAAACACATGATGTCACA TGAATGTCTATTGTGTGAGGTGATGGT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0036 a0001c0001t0012g0036	1	302	0.0033	-76	c.-27 others(95): Show c.-27-29847_-27-29772delAACAGCACTCTGTCATGCAGCTGAAG TTATGGAAACACATGATGTCACATGAATGTCTATTGTGTGAGGTGATGGT	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	2/17			chr1	TogoVar
DEFB131B_chr11_71873453_71889561	71885111	AGAGATTG others(69): Show AGAGATTGTACACCCGTCTGTATTGGGTGTCATATCATCTTCTTCCTCCC TGAATATTAAGAACAGTATCAAAGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	416	0.0024	-76	c.55 others(85): Show c.551_*626delGAGATTGTACACCCGTCTGTATTGGGTGTCATATCA TCTTCTTCCTCCCTGAATATTAAGAACAGTATCAAAGGGG	DEFB131B	ENSG00000225805.4	transcript	ENST00000530210.1	protein_coding		551		chr11	TogoVar
DGKB_chr7_14140049_14907751	14379812	CCTCCCAA others(69): Show CCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGAGCGGGCCCGGCCTTAA GCAGTTGCTTTTAATACAATAATTCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00558.hp1 others(77): Show HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01255.hp2 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18993.hp2 NA19002.hp1 NA19002.hp2 NA19030.hp2 NA19043.hp1 NA19062.hp2 NA19081.hp1 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0015 a0001c0016 a0002c0005 a0002c0007 a0003c0011 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0039 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0022 a0001c0002t0038 a0001c0002t0042 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0010 a0001c0003t0015 a0001c0003t0018 a0001c0003t0035 a0001c0003t0036 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0010 a0001c0006t0004 a0001c0012t0003 a0001c0015t0032 a0001c0016t0001 a0002c0005t0006 a0002c0005t0011 a0002c0007t0006 a0003c0011t0002 a0004c0010t0033	a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0044 others(77): Show a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0048 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0007g0132 a0001c0001t0008g0123 a0001c0001t0016g0042 a0001c0001t0020g0097 a0001c0001t0023g0122 a0001c0001t0025g0021 a0001c0001t0028g0095 a0001c0001t0039g0022 a0001c0001t0041g0147 a0001c0002t0001g0017 a0001c0002t0001g0053 a0001c0002t0001g0090 a0001c0002t0001g0096 a0001c0002t0002g0020 a0001c0002t0002g0074 a0001c0002t0002g0102 a0001c0002t0002g0137 a0001c0002t0003g0010 a0001c0002t0003g0058 a0001c0002t0003g0072 a0001c0002t0003g0081 a0001c0002t0004g0088 a0001c0002t0009g0064 a0001c0002t0012g0120 a0001c0002t0013g0104 a0001c0002t0022g0013 a0001c0002t0038g0093 a0001c0002t0042g0148 a0001c0003t0001g0006 a0001c0003t0001g0136 a0001c0003t0002g0028 a0001c0003t0002g0116 a0001c0003t0004g0009 a0001c0003t0004g0012 a0001c0003t0005g0016 a0001c0003t0005g0130 a0001c0003t0010g0089 a0001c0003t0015g0086 a0001c0003t0018g0061 a0001c0003t0035g0126 a0001c0003t0036g0050 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0001g0035 a0001c0004t0001g0040 a0001c0004t0001g0071 a0001c0004t0002g0112 a0001c0004t0002g0131 a0001c0004t0003g0067 a0001c0004t0004g0113 a0001c0004t0005g0023 a0001c0004t0010g0100 a0001c0006t0004g0145 a0001c0012t0003g0015 a0001c0015t0032g0019 a0001c0016t0001g0039 a0002c0005t0006g0139 a0002c0005t0011g0062 a0002c0007t0006g0041 a0003c0011t0002g0110 a0004c0010t0033g0007	80	148	0.5405	-76	c.183 others(97): Show c.1836-34497_1836-34422delAGGAATTATTGTATTAAAAGCAAC TGCTTAAGGCCGGGCCCGCTCGCTCACGCCTGTAATCCCAACACTTTGGG AG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKG_chr3_186142201_186367234	186302483	TATATATA others(69): Show TATATATATATATATATATATATACATATGTGTATATATATATATATATA CATATGTATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19043.hp2 HG00639.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0012 a0002c0001t0003 a0001c0002t0012 a0002c0001t0003	a0001c0002t0012g0088 a0002c0001t0003g0232 a0001c0002t0012g0088 a0002c0001t0003g0232	2	234	0.0086	-76	c.145 others(93): Show c.145-4330_145-4255delGTATATATATATATATATATACATATGT ATATATATATATATATACACATATGTATATATATATATATATATATAT	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DHRS12_chr13_51762993_51809163	51776003	AGTATTCT others(69): Show AGTATTCTCCTACATGTATTCTCCTACATGTATTCTACAGTATTCTCCTA CATGTATTCTACAGTATTCTCCTACAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02976.hp2 others(2): Show HG01243.hp1 HG01884.hp2 HG02976.hp2 HG03453.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0003 a0001c0001t0001 a0001c0001t0007 a0002c0002t0003	a0001c0001t0001g0135 a0001c0001t0007g0156 a0002c0002t0003g0042 others(2): Show a0001c0001t0001g0135 a0001c0001t0007g0156 a0002c0002t0003g0042 a0002c0002t0003g0174 a0002c0002t0003g0176	5	420	0.0119	-76	c.363 others(92): Show c.363+981_363+1056delATGTAGGAGAATACTGTAGAATACATGTA GGAGAATACTGTAGAATACATGTAGGAGAATACATGTAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRS12_chr13_51762993_51809163	51776065	AGTATTCT others(69): Show AGTATTCTCCTACATGTATTCTCCTACATGTATTCTACAGTATTCTCCTA CATGTATTCTACAGTATTCTCCTACAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02148.hp2 HG01361.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0049 a0002c0002t0003g0232 a0002c0002t0003g0049 a0002c0002t0003g0232	2	420	0.0048	-76	c.363 others(91): Show c.363+919_363+994delATGTAGGAGAATACTGTAGAATACATGTAG GAGAATACTGTAGAATACATGTAGGAGAATACATGTAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2234268	CGCACACA others(69): Show CGCACACAGCTGGCTCCATGCATGTGCATTCAATATCTCCCTCCCTGCCT TCACCCATGCACACAGCCCTGATCCAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	50	0.0200	-76	c.804 others(93): Show c.804+8679_804+8754delATGGATCAGGGCTGTGTGCATGGGTGAA GGCAGGGAGGGAGATATTGAATGCACATGCATGGAGCCAGCTGTGTGC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2435013	AGGTACAG others(69): Show AGGTACAGAAATAGAGAACAGACTAGTAATTCTCAGGGGTTCAGGACAGG AGAGGAGGTTGAGGTAGGATGCAGGTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01261.hp1 HG02486.hp2 others(6): Show HG01167.hp1 HG01261.hp1 HG02486.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG03098.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0007 a0008 a0011	a0001c0001 a0002c0005 a0004c0004 others(4): Show a0001c0001 a0002c0005 a0004c0004 a0005c0006 a0007c0007 a0008c0009 a0011c0013	a0001c0001t0001 a0002c0005t0004 a0004c0004t0005 others(5): Show a0001c0001t0001 a0002c0005t0004 a0004c0004t0005 a0004c0004t0009 a0005c0006t0004 a0007c0007t0001 a0008c0009t0013 a0011c0013t0015	a0001c0001t0001g0003 a0001c0001t0001g0026 a0002c0005t0004g0004 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0026 a0002c0005t0004g0004 a0004c0004t0005g0009 a0004c0004t0009g0032 a0005c0006t0004g0034 a0007c0007t0001g0028 a0008c0009t0013g0005 a0011c0013t0015g0011	9	50	0.1800	-76	c.110 others(93): Show c.110-9785_110-9710delAACCTGCATCCTACCTCAACCTCCTCTC CTGTCCTGAACCCCTGAGAATTACTAGTCTGTTCTCTATTTCTGTACC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DIP2C_chr10_269201_694668	417666	CAGGGCTC others(69): Show CAGGGCTCGGATAGGCCTCCCTGTCCGCCTGTGCCTGTCGGCTCAAATAG GCCTCCCTGTCTGCCTGCGCCTGTCAG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0003 a0001c0009t0003g0003	1	88	0.0114	-76	c.739 others(93): Show c.739+1323_739+1398delCTGACAGGCGCAGGCAGACAGGGAGGCC TATTTGAGCCGACAGGCACAGGCGGACAGGGAGGCCTATCCGAGCCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	417746	TCGGATAG others(69): Show TCGGATAGGCATCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCT CCCTGTCCACCTGTTCCTGTCAGGGCG	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19081.hp1 HG01952.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0022 a0001c0002t0003g0036 a0001c0001t0001g0022 a0001c0002t0003g0036	2	88	0.0227	-76	c.739 others(93): Show c.739+1243_739+1318delCGCCCTGACAGGAACAGGTGGACAGGGA GGCCTATCCGAGCCCTGACAGGTGCAGGTGGACAGGGATGCCTATCCG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIPK2A_chr3_143966823_143997368	143978598	CTATCTAT others(69): Show CTATCTATATATATATATCTATATCTATATATATATATATATCTATATAT ATATATATATATCTATATATAGATATA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0260 a0001c0001t0005g0260	1	408	0.0025	-76	c.657 others(93): Show c.657+5613_657+5688delCTATATATATATATCTATATCTATATAT ATATATATATCTATATATATATATATATATCTATATATAGATATATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLGAP2_chr8_732628_1713476	939703	GTGGGAGG others(69): Show GTGGGAGGTGCAGACACAGGGGGGCTGGGGTGCCTGGGAGTGGGAGGTGC AGACACAGGGGCTGGGGTGCCTGGGAT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp2 HG02922.hp1 HG02647.hp1 HG02818.hp2 HG02922.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0006 a0003c0005 a0001c0003 a0002c0006 a0003c0005	a0001c0003t0017 a0002c0006t0021 a0003c0005t0002 a0001c0003t0017 a0002c0006t0021 a0003c0005t0002	a0001c0003t0017g0004 a0002c0006t0021g0014 a0003c0005t0002g0031 a0001c0003t0017g0004 a0002c0006t0021g0014 a0003c0005t0002g0031	3	40	0.0750	-76	c.73+ others(93): Show c.73+31759_73+31834delGGCTGGGGTGCCTGGGAGTGGGAGGTGC AGACACAGGGGCTGGGGTGCCTGGGATTGGGAGGTGCAGACACAGGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAL4_chr22_38773508_38799143	38775601	TGGGGTTG others(69): Show TGGGGTTGGGGCCTGTGACTCCCTTTAGACATGTCCAGACAAGGTTTCCG ATTTTTGCCCCACACTGACTCTGGCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG02486.hp1 HG01175.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	2	370	0.0054	-76	c.37 others(87): Show c.3772_*3847delCAGCCAGAGTCAGTGTGGGGCAAAAATCGGAAAC CTTGTCTGGACATGTCTAAAGGGAGTCACAGGCCCCAACCCC	DNAL4	ENSG00000100246.13	transcript	ENST00000216068.9	protein_coding		2906		chr22	TogoVar
DOCK8_chr9_209865_470255	403916	ACATATAT others(69): Show ACATATATATATATGTGTATATATATATGTGTATATATATATATGTATAT ATATATATATGTGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0065 a0001c0030t0001g0065	1	256	0.0039	-76	c.323 others(94): Show c.3235-1001_3235-926delCATATATATATATGTGTATATATATAT GTGTATATATATATATGTATATATATATATATGTGTATATATATATATG	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DOCK9_chr13_98788429_98983064	98858027	TAAAATTA others(69): Show TAAAATTAGGCCCTAAGTTCTCAGAGTCTCAAGCTTGATTCCAGAACTAG AGTCCTAATTTAAGACAAACAGATGGA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18962.hp1 NA19087.hp2 HG02135.hp2 NA18962.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0197 a0001c0001t0004g0206 a0001c0001t0004g0210 a0001c0001t0001g0197 a0001c0001t0004g0206 a0001c0001t0004g0210	3	348	0.0086	-76	c.369 others(95): Show c.3698-2072_3698-1997delTCCATCTGTTTGTCTTAAATTAGGAC TCTAGTTCTGGAATCAAGCTTGAGACTCTGAGAACTTAGGGCCTAATTTT	DOCK9	ENSG00000088387.22	transcript	ENST00000682017.1	protein_coding	33/52			chr13	TogoVar
DPP6_chr7_154047398_154899285	154443554	GGACGGAT others(69): Show GGACGGATGTGGATGAATAGATGGATGGATGGATGAGTGGATGGATGGGT GAATGGATGGATGGATATGTCGATGAA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01952.hp2 HG02129.hp1 others(4): Show HG00558.hp2 HG01952.hp2 HG02129.hp1 HG02280.hp1 HG02922.hp1 HG02965.hp2 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0001c0015 others(4): Show a0001c0003 a0001c0006 a0001c0015 a0001c0024 a0001c0025 a0002c0004 a0002c0012	a0001c0003t0007 a0001c0006t0003 a0001c0015t0017 others(4): Show a0001c0003t0007 a0001c0006t0003 a0001c0015t0017 a0001c0024t0028 a0001c0025t0001 a0002c0004t0006 a0002c0012t0021	a0001c0003t0007g0024 a0001c0006t0003g0013 a0001c0015t0017g0036 others(4): Show a0001c0003t0007g0024 a0001c0006t0003g0013 a0001c0015t0017g0036 a0001c0024t0028g0003 a0001c0025t0001g0018 a0002c0004t0006g0028 a0002c0012t0021g0035	7	38	0.1842	-76	c.244 others(93): Show c.244-2659_244-2584delGACGGATGTGGATGAATAGATGGATGGA TGGATGAGTGGATGGATGGGTGAATGGATGGATGGATATGTCGATGAA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
DYNLT2B_chr3_196286219_196323240	196317398	GTGTAAAG others(69): Show GTGTAAAGTTAGTGATCTCACAAACCTAGCTGAGTACCCTCTGCTCTGGC CCGTGAGCCTGATATTTTTTTCAGTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03490.hp1 HG03492.hp2 others(3): Show HG00099.hp1 HG03490.hp1 HG03492.hp2 NA18950.hp2 NA19060.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0126 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0126 a0001c0001t0001g0127	6	330	0.0182	-76	c.113 others(91): Show c.113+566_113+641delACACTGAAAAAAATATCAGGCTCACGGGCC AGAGCAGAGGGTACTCAGCTAGGTTTGTGAGATCACTAACTTTACA	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar

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