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
CNTN1_chr12_40687439_41077415	40773636	TATATATA others(53): Show TATATATATATATATATATACACATATATATATATATACACATATATATA TATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(124): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 NA18747.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18970.hp2 NA18973.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0013 a0002c0007 a0003c0008 a0004c0011 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0022 a0001c0002t0023 a0001c0002t0027 a0001c0003t0002 a0001c0003t0005 a0001c0003t0011 a0001c0003t0016 a0001c0003t0020 a0001c0004t0001 a0001c0004t0007 a0001c0005t0002 a0001c0006t0006 a0001c0012t0021 a0001c0013t0001 a0002c0007t0008 a0003c0008t0002 a0004c0011t0001 a0005c0010t0002	a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0101 others(124): Show a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0101 a0001c0001t0001g0152 a0001c0001t0001g0177 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0069 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0130 a0001c0001t0002g0146 a0001c0001t0002g0153 a0001c0001t0002g0158 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0003g0023 a0001c0001t0003g0120 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0004g0029 a0001c0001t0004g0086 a0001c0001t0004g0093 a0001c0001t0004g0115 a0001c0001t0004g0225 a0001c0001t0005g0020 a0001c0001t0009g0181 a0001c0001t0009g0182 a0001c0001t0009g0183 a0001c0001t0010g0202 a0001c0001t0012g0012 a0001c0001t0013g0211 a0001c0001t0014g0185 a0001c0001t0015g0219 a0001c0001t0017g0187 a0001c0001t0024g0167 a0001c0001t0026g0190 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0044 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0174 a0001c0002t0001g0189 a0001c0002t0001g0194 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0002g0221 a0001c0002t0010g0126 a0001c0002t0022g0172 a0001c0002t0023g0144 a0001c0002t0027g0041 a0001c0003t0002g0108 a0001c0003t0005g0082 a0001c0003t0005g0155 a0001c0003t0005g0178 a0001c0003t0005g0191 a0001c0003t0005g0193 a0001c0003t0011g0199 a0001c0003t0016g0226 a0001c0003t0020g0165 a0001c0004t0001g0217 a0001c0004t0007g0213 a0001c0004t0007g0214 a0001c0005t0002g0173 a0001c0006t0006g0015 a0001c0006t0006g0017 a0001c0006t0006g0018 a0001c0006t0006g0021 a0001c0006t0006g0051 a0001c0006t0006g0119 a0001c0012t0021g0204 a0001c0013t0001g0050 a0002c0007t0008g0122 a0002c0007t0008g0123 a0002c0007t0008g0186 a0002c0007t0008g0192 a0003c0008t0002g0143 a0004c0011t0001g0097 a0005c0010t0002g0026	127	230	0.5522	-60	c.-77 others(79): Show c.-77+81081_-77+81140delACACATATATATATATATATACACAT ATATATATATATATATACACATATATATATATAT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN6_chr3_1088024_1409217	1245218	ATATATAT others(53): Show ATATATATATATATATATACACACACACATATATATATAACATATATATA TATATATACAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02132.hp1 NA18950.hp1 others(1): Show HG01261.hp1 HG02132.hp1 NA18950.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0149 a0001c0002t0001g0045 a0001c0003t0001g0165 others(1): Show a0001c0001t0001g0149 a0001c0002t0001g0045 a0001c0003t0001g0165 a0001c0004t0001g0058	4	232	0.0172	-60	c.358 others(79): Show c.358+17226_358+17285delTATATATATATATATATACACACACA CATATATATATAACATATATATATATATATACAC	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
CNTNAP5_chr2_124020287_124926219	124670582	TCTTGTTG others(53): Show TCTTGTTGTTGTTGTTTGTACTTTTGATGTCAAAGCTAAAATCCACCTTA GAGGTGTTGCA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01069.hp1 others(57): Show HG00423.hp1 HG00423.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01261.hp1 HG01261.hp2 HG01891.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03704.hp1 HG03704.hp2 NA18906.hp1 NA18906.hp2 NA19000.hp1 NA19000.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0002c0004 others(4): Show a0001c0001 a0001c0002 a0002c0004 a0002c0008 a0003c0007 a0004c0006 a0006c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0016 a0001c0002t0019 a0002c0004t0001 a0002c0008t0001 a0003c0007t0001 a0004c0006t0001 a0006c0003t0008	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(57): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0003g0006 a0001c0001t0003g0057 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0005g0040 a0001c0001t0006g0025 a0001c0001t0007g0039 a0001c0001t0009g0061 a0001c0001t0013g0041 a0001c0001t0014g0037 a0001c0001t0015g0036 a0001c0001t0017g0012 a0001c0001t0018g0021 a0001c0001t0020g0014 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0001g0046 a0001c0002t0001g0054 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0034 a0001c0002t0002g0060 a0001c0002t0003g0004 a0001c0002t0003g0056 a0001c0002t0004g0044 a0001c0002t0004g0047 a0001c0002t0005g0045 a0001c0002t0006g0028 a0001c0002t0008g0058 a0001c0002t0010g0032 a0001c0002t0011g0029 a0001c0002t0012g0018 a0001c0002t0016g0055 a0001c0002t0019g0051 a0002c0004t0001g0001 a0002c0008t0001g0038 a0003c0007t0001g0017 a0004c0006t0001g0013 a0006c0003t0008g0035	60	64	0.9375	-60	c.207 others(81): Show c.2077+22694_2077+22753delGTTGTTTGTACTTTTGATGTCAAA GCTAAAATCCACCTTAGAGGTGTTGCACTTGTTGTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124860444	CTTCCTTC others(53): Show CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19043.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0011 a0001c0002t0001 a0001c0002t0011	a0001c0002t0001g0062 a0001c0002t0011g0029 a0001c0002t0001g0062 a0001c0002t0011g0029	2	64	0.0313	-60	c.321 others(79): Show c.3218-4854_3218-4795delTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL18A1_chr21_45400165_45518720	45497394	GGTGTGGC others(53): Show GGTGTGGCCTGGCCCCCACATGGCCTGCTGACGGGGACCCAGGGCGCCCC TGCTCTCCAGC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0005 a0008c0018t0005	a0008c0018t0005g0132 a0008c0018t0005g0132	1	292	0.0034	-60	c.262 others(77): Show c.2621-204_2621-145delGTGTGGCCTGGCCCCCACATGGCCTGCT GACGGGGACCCAGGGCGCCCCTGCTCTCCAGC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	31/41			chr21	TogoVar
COL18A1_chr21_45400165_45518720	45510951	AACACCCC others(53): Show AACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACA CACCCCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0019 a0019	a0019c0096 a0019c0096	a0019c0096t0015 a0019c0096t0015	a0019c0096t0015g0045 a0019c0096t0015g0045	1	292	0.0034	-60	c.369 others(77): Show c.3694-159_3694-100delACACCCCACATACACCCCCAAACACCCC CCACACCCCACACACACAACACACCCCCCCCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	40/41			chr21	TogoVar
COL23A1_chr5_178232618_178595393	178448110	ACAGTCCG others(53): Show ACAGTCCGTTTTGTTCTGTTAGTGCTAGTCGCAGTCCGTTTTGTTCTGTT AGTGCTAGTCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01884.hp1 others(18): Show HG00280.hp1 HG01167.hp1 HG01884.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02970.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG04115.hp2 NA18522.hp1 NA18975.hp1 NA18999.hp2 NA19056.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0002c0009 a0003c0005 a0004c0006 a0004c0011	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0009 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0009t0008 a0003c0005t0002 a0003c0005t0003 a0004c0006t0003 a0004c0011t0001	a0001c0001t0003g0159 a0001c0001t0003g0166 a0001c0001t0003g0212 others(18): Show a0001c0001t0003g0159 a0001c0001t0003g0166 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0004g0037 a0001c0001t0004g0164 a0001c0001t0004g0190 a0001c0001t0004g0197 a0001c0001t0005g0161 a0001c0001t0005g0216 a0002c0002t0009g0225 a0002c0003t0002g0097 a0002c0003t0002g0140 a0002c0003t0003g0126 a0002c0003t0005g0131 a0002c0009t0008g0235 a0003c0005t0002g0061 a0003c0005t0003g0220 a0004c0006t0003g0128 a0004c0006t0003g0130 a0004c0011t0001g0093	21	236	0.0890	-60	c.361 others(81): Show c.361+112512_361+112571delCGACTAGCACTAACAGAACAAAAC GGACTGCGACTAGCACTAACAGAACAAAACGGACTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178525190	GGGACCCG others(53): Show GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0036 a0002c0003t0001g0036	1	236	0.0042	-60	c.361 others(79): Show c.361+35432_361+35491delTGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178525430	AGGACCCG others(53): Show AGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	236	0.0042	-60	c.361 others(79): Show c.361+35192_361+35251delCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178525610	GGGACCCG others(53): Show GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03017.hp2 HG03239.hp2 others(3): Show HG02630.hp1 HG03017.hp2 HG03239.hp2 HG03669.hp1 HG04184.hp2 HG04199.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0003c0005	a0001c0001t0003 a0001c0001t0004 a0001c0004t0001 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0004t0001 a0002c0002t0001 a0002c0003t0001 a0003c0005t0002	a0001c0001t0003g0027 a0001c0001t0004g0174 a0001c0004t0001g0070 others(3): Show a0001c0001t0003g0027 a0001c0001t0004g0174 a0001c0004t0001g0070 a0002c0002t0001g0096 a0002c0003t0001g0134 a0003c0005t0002g0005	6	236	0.0254	-60	c.361 others(79): Show c.361+35012_361+35071delTGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL2A1_chr12_47967967_48009476	47971778	TATATGTA others(53): Show TATATGTATATATTATTATATTGTATAATAATATATGTATATATTATTAT ATTGTATAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0011 a0011	a0011c0045 a0011c0045	a0011c0045t0001 a0011c0045t0001	a0011c0045t0001g0268 a0011c0045t0001g0268	1	414	0.0024	-60	c.15 others(71): Show c.1569_*1628delTATTATACAATATAATAATATATACATATATTAT TATACAATATAATAATATATACATAT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		1188		chr12	TogoVar
COL3A1_chr2_188969373_189017746	188997014	TATATATA others(53): Show TATATATATATGAGACATATATATATGAGACATATATATATGAGACATAT ATATATGAGAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp2 HG02145.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0112 a0001c0001t0010g0111 a0001c0001t0001g0112 a0001c0001t0010g0111	2	376	0.0053	-60	c.176 others(76): Show c.1762-119_1762-60delTATATATATGAGACATATATATATGAGAC ATATATATATGAGACATATATATATGAGACA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	24/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A1_chr13_110143963_110312157	110219854	ATGTATAT others(53): Show ATGTATATATGTGTGTGTATATATGTATATATATGTGTGTATATATATGT ATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG02965.hp2 HG02976.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0179 a0003c0012t0001g0180 a0003c0012t0001g0179 a0003c0012t0001g0180	2	344	0.0058	-60	c.145 others(77): Show c.145-5899_145-5840delCACATATATATACATATATATACACACA TATATATACATATATACACACACATATATACA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481158	TGTTCTGT others(53): Show TGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCT GGAGACACACA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0111 a0002c0111	a0002c0111t0015 a0002c0111t0015	a0002c0111t0015g0368 a0002c0111t0015g0368	1	372	0.0027	-60	c.275 others(77): Show c.2758+778_2758+837delCTCCGTTGCTGGAGACACACTGTTCTGT CCCTCCGTTGCTGGAGACACACAGTTCTGTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481442	GTTGCTGG others(53): Show GTTGCTGGAGACACACTGCTGTGTCCCTCCGTTGCTGGAGACACACAGTT CTGTCCTTCCA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0093 a0003c0093	a0003c0093t0010 a0003c0093t0010	a0003c0093t0010g0148 a0003c0093t0010g0148	1	372	0.0027	-60	c.275 others(78): Show c.2759-1056_2759-997delCTGTGTCCCTCCGTTGCTGGAGACACA CAGTTCTGTCCTTCCATTGCTGGAGACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481490	TTCTGTCC others(53): Show TTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02809.hp1 others(1): Show HG01884.hp2 HG01891.hp1 HG02809.hp1 NA18906.hp2	a0003 a0020 a0003 a0020	a0003c0039 a0003c0040 a0003c0118 others(1): Show a0003c0039 a0003c0040 a0003c0118 a0020c0096	a0003c0039t0008 a0003c0040t0001 a0003c0118t0036 others(1): Show a0003c0039t0008 a0003c0040t0001 a0003c0118t0036 a0020c0096t0010	a0003c0039t0008g0027 a0003c0040t0001g0203 a0003c0118t0036g0139 others(1): Show a0003c0039t0008g0027 a0003c0040t0001g0203 a0003c0118t0036g0139 a0020c0096t0010g0208	4	372	0.0108	-60	c.275 others(77): Show c.2759-966_2759-907delCTCTGTCCTTCCATTGCTGGAGACACAC TGTTCTGTCCCTCCGTTGCTGGAGACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481772	ATTGCTGG others(53): Show ATTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCT CTGTCCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0074 a0001c0074	a0001c0074t0014 a0001c0074t0014	a0001c0074t0014g0043 a0001c0074t0014g0043	1	372	0.0027	-60	c.275 others(77): Show c.2759-712_2759-653delTGCTGGAGACACACTGCTCTGTCCCTCC GTTGCTGGAGACACACTGCTCTGTCCCTCCGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203489	GTATATGT others(53): Show GTATATGTGTATATATACATATATGTGTGTATATATGTGTATATATACAT ATATGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG01070.hp2 others(9): Show HG00099.hp2 HG00423.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01261.hp2 HG02886.hp1 HG03831.hp1 NA18995.hp2 NA18999.hp2 NA19065.hp2 NA19079.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0011 a0013 a0024	a0001c0001 a0002c0007 a0003c0002 others(6): Show a0001c0001 a0002c0007 a0003c0002 a0005c0005 a0006c0013 a0011c0012 a0011c0021 a0013c0015 a0024c0045	a0001c0001t0001 a0002c0007t0001 a0003c0002t0003 others(6): Show a0001c0001t0001 a0002c0007t0001 a0003c0002t0003 a0005c0005t0002 a0006c0013t0009 a0011c0012t0001 a0011c0021t0003 a0013c0015t0002 a0024c0045t0002	a0001c0001t0001g0257 a0001c0001t0001g0292 a0002c0007t0001g0310 others(9): Show a0001c0001t0001g0257 a0001c0001t0001g0292 a0002c0007t0001g0310 a0003c0002t0003g0269 a0005c0005t0002g0179 a0006c0013t0009g0041 a0011c0012t0001g0189 a0011c0012t0001g0190 a0011c0012t0001g0321 a0011c0021t0003g0320 a0013c0015t0002g0258 a0024c0045t0002g0076	12	344	0.0349	-60	c.88- others(77): Show c.88-34233_88-34174delGTGTATATATACATATATGTGTGTATAT ATGTGTATATATACATATATGTGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041782	GGAAGGGA others(53): Show GGAAGGGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0006 a0013c0013t0006	a0013c0013t0006g0155 a0013c0013t0006g0155	1	284	0.0035	-60	c.350 others(77): Show c.3505+306_3505+365delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCCTTTCTTTCTTTCTTTCCCTTC	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134734218	CACAGGAA others(53): Show CACAGGAACATCATGGCTCTGGAAAGTCCAGTTCACCTTTGTTGGGAAAA GCAGCAGCCGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp1 HG01106.hp1 others(2): Show HG00558.hp2 HG01099.hp1 HG01106.hp1 HG02109.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0065	a0001c0001t0001 a0001c0001t0002 a0001c0003t0049 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0049 a0001c0004t0011 a0001c0065t0003	a0001c0001t0001g0125 a0001c0001t0002g0243 a0001c0003t0049g0158 others(2): Show a0001c0001t0001g0125 a0001c0001t0002g0243 a0001c0003t0049g0158 a0001c0004t0011g0080 a0001c0065t0003g0009	5	272	0.0184	-60	c.138 others(79): Show c.1389+2152_1389+2211delACAGGAACATCATGGCTCTGGAAAGT CCAGTTCACCTTTGTTGGGAAAAGCAGCAGCCGT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	9/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A2_chr21_46093112_46134801	46134617	TAGGGTCA others(53): Show TAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTA GGGTCAGGGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp1 NA18941.hp2 others(3): Show HG00423.hp2 HG00597.hp1 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18994.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0042 a0003c0007t0007g0048 a0003c0007t0007g0195 others(3): Show a0003c0007t0007g0042 a0003c0007t0007g0048 a0003c0007t0007g0195 a0003c0007t0007g0197 a0003c0007t0007g0205 a0003c0007t0007g0206	6	372	0.0161	-60	c.51 others(71): Show c.5127_*5186delAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGG TGAGGGTCAGGTTTAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4817		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134617	TAGGGTCA others(53): Show TAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTA GGGTCAGGGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp1 NA18941.hp2 others(3): Show HG00423.hp2 HG00597.hp1 NA18941.hp2 NA18944.hp1 NA18949.hp1 NA18994.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0044 a0003c0008t0003g0050 a0003c0008t0003g0191 others(3): Show a0003c0008t0003g0044 a0003c0008t0003g0050 a0003c0008t0003g0191 a0003c0008t0003g0193 a0003c0008t0003g0201 a0003c0008t0003g0202	6	364	0.0165	-60	c.20 others(71): Show c.2066_*2125delAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGG TGAGGGTCAGGTTTAGGGTCAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1770		chr21	TogoVar
COL9A3_chr20_62812050_62846159	62813162	GGAGCCCA others(53): Show GGAGCCCATCGGAGACCCCAGGCCCCAGCCCAGCAGGACCTGCAGGGGAC GAGCCAGCCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	412	0.0024	-60	c.-39 others(71): Show c.-3902_-3843delGAGCCCATCGGAGACCCCAGGCCCCAGCCCAGCA GGACCTGCAGGGGACGAGCCAGCCGA	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding		3887		chr20	TogoVar
COL9A3_chr20_62812050_62846159	62813253	AGCAGGAC others(53): Show AGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAG GCCCCCGCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG00741.hp2 others(11): Show HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01516.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02735.hp1 HG03453.hp1 HG03669.hp1 HG03704.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0005c0012	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0010t0004 a0005c0012t0001	a0001c0001t0001g0029 a0001c0001t0001g0255 a0001c0001t0006g0259 others(10): Show a0001c0001t0001g0029 a0001c0001t0001g0255 a0001c0001t0006g0259 a0001c0002t0001g0029 a0001c0002t0001g0251 a0001c0002t0001g0257 a0001c0010t0004g0258 a0005c0012t0001g0028 a0005c0012t0001g0249 a0005c0012t0001g0250 a0005c0012t0001g0252 a0005c0012t0001g0253 a0005c0012t0001g0256	14	412	0.0340	-60	c.-38 others(71): Show c.-3811_-3752delGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCC CATCGGAGACCCCAGGCCCCCGCCCG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding		3796		chr20	TogoVar
COL9A3_chr20_62812050_62846159	62813308	CGCCCGGC others(53): Show CGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGAC CCCAGGCCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0127 a0001c0004t0001g0127	1	412	0.0024	-60	c.-37 others(71): Show c.-3756_-3697delGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGA GAGCCCATCGGAGACCCCAGGCCCCA	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding		3741		chr20	TogoVar
COL9A3_chr20_62812050_62846159	62813331	CGAGCCAG others(53): Show CGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCAGCCCGGCAGGAC CTACAAGGGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 NA18985.hp1 NA19004.hp2 others(1): Show HG02683.hp1 NA18985.hp1 NA19004.hp2 NA19068.hp2	a0002 a0008 a0002 a0008	a0002c0020 a0008c0019 a0008c0044 a0002c0020 a0008c0019 a0008c0044	a0002c0020t0001 a0008c0019t0001 a0008c0044t0002 a0002c0020t0001 a0008c0019t0001 a0008c0044t0002	a0002c0020t0001g0099 a0008c0019t0001g0353 a0008c0019t0001g0354 others(1): Show a0002c0020t0001g0099 a0008c0019t0001g0353 a0008c0019t0001g0354 a0008c0044t0002g0355	4	412	0.0097	-60	c.-37 others(71): Show c.-3733_-3674delGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCC CCAGCCCGGCAGGACCTACAAGGGAT	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding		3718		chr20	TogoVar
COL9A3_chr20_62812050_62846159	62813391	TGAGCCAG others(53): Show TGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCGGCAGGAC CTGCAGGGGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG03225.hp2 NA18986.hp1 HG01515.hp2 HG03225.hp2 NA18986.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0007c0018 a0001c0001 a0001c0003 a0007c0018	a0001c0001t0001 a0001c0003t0001 a0007c0018t0001 a0001c0001t0001 a0001c0003t0001 a0007c0018t0001	a0001c0001t0001g0231 a0001c0003t0001g0284 a0007c0018t0001g0100 a0001c0001t0001g0231 a0001c0003t0001g0284 a0007c0018t0001g0100	3	412	0.0073	-60	c.-36 others(71): Show c.-3673_-3614delGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCC CCCGCCCGGCAGGACCTGCAGGGGAC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding		3658		chr20	TogoVar
COL9A3_chr20_62812050_62846159	62813488	CGCCCGGC others(53): Show CGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGAC CCCAGGCCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02970.hp2 HG03209.hp2 others(2): Show HG02622.hp1 HG02970.hp2 HG03209.hp2 HG03486.hp2 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0008 a0003c0009 others(1): Show a0001c0001 a0002c0008 a0003c0009 a0003c0022	a0001c0001t0001 a0002c0008t0001 a0003c0009t0001 others(1): Show a0001c0001t0001 a0002c0008t0001 a0003c0009t0001 a0003c0022t0003	a0001c0001t0001g0020 a0002c0008t0001g0105 a0003c0009t0001g0013 others(2): Show a0001c0001t0001g0020 a0002c0008t0001g0105 a0003c0009t0001g0013 a0003c0009t0001g0088 a0003c0022t0003g0079	5	412	0.0121	-60	c.-35 others(71): Show c.-3576_-3517delGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGA GAGCCCATCGGAGACCCCAGGCCCCA	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding		3561		chr20	TogoVar
COL9A3_chr20_62812050_62846159	62813511	CGAGCCAG others(53): Show CGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCAGCCCGGCAGGAC CTACAAGGGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0134 a0001c0010t0002g0134	1	412	0.0024	-60	c.-35 others(71): Show c.-3553_-3494delGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCC CCAGCCCGGCAGGACCTACAAGGGAT	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding		3538		chr20	TogoVar
COLEC11_chr2_3590112_3649644	3605366	GGGGGCGG others(53): Show GGGGGCGGGGGAGTCACGTGGGTGCCGAGGAGGGGGAGGGGAGTCACGTG GGTGCCGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp2 HG06807.hp1 HG01884.hp1 HG03486.hp2 HG06807.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0011 a0002c0002 a0005c0011	a0002c0002t0001 a0005c0011t0001 a0002c0002t0001 a0005c0011t0001	a0002c0002t0001g0189 a0002c0002t0001g0190 a0005c0011t0001g0032 a0002c0002t0001g0189 a0002c0002t0001g0190 a0005c0011t0001g0032	3	378	0.0079	-60	c.130 others(75): Show c.130+901_130+960delCGGGGGAGTCACGTGGGTGCCGAGGAGGGG GAGGGGAGTCACGTGGGTGCCGAGGAGGGG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3640746	TGGACACC others(53): Show TGGACACCCACCCACCATGTAGATCCCACAGTGGACACCCACCCCCGTCA CATCCCACAGC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0171 a0002c0003t0001g0171	1	378	0.0027	-60	c.328 others(75): Show c.328+428_328+487delACCATGTAGATCCCACAGTGGACACCCACC CCCGTCACATCCCACAGCGGACACCCACCC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COP1_chr1_175939831_176212286	175998024	GCACAATG others(53): Show GCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATTAAAAAAAAAA AAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0268 a0001c0006t0012g0268	1	300	0.0033	-60	c.173 others(79): Show c.1730-8605_1730-8546delTTTTTTTTTTTTTTTTTTTTTAATTA TACTCTAAGTTTTAGGGTACATGTGCACATTGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	15/19			chr1	TogoVar
CPLX1_chr4_779957_831129	826406	GGGGCGGG others(53): Show GGGGCGGGGGTGGACCCGGGGGCGGGGGCGGGGGGCGGGGGCGGGGGCGG GGGGTGGACCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0100 a0001c0001t0017g0100	1	416	0.0024	-60	c.-50 others(69): Show c.-500_-441delGGGTCCACCCCCCGCCCCCGCCCCCGCCCCCCGCCC CCGCCCCCGGGTCCACCCCCGCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		278		chr4	TogoVar
CPSF6_chr12_69234569_69279358	69236234	ATAGCATA others(53): Show ATAGCATATATATTATATATTAAAATATATGTAGCATATATATTATATAT TAAAATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01361.hp2 HG01884.hp1 others(17): Show HG00423.hp1 HG01361.hp2 HG01884.hp1 HG02132.hp2 HG02451.hp2 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03486.hp2 NA18906.hp2 NA18946.hp1 NA18999.hp1 NA19066.hp2 NA19083.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0030 others(4): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0030 a0001c0002t0012 a0001c0002t0036 a0001c0002t0037 a0001c0002t0071	a0001c0001t0003g0001 a0001c0001t0003g0081 a0001c0001t0003g0169 others(9): Show a0001c0001t0003g0001 a0001c0001t0003g0081 a0001c0001t0003g0169 a0001c0001t0008g0001 a0001c0001t0030g0176 a0001c0001t0030g0178 a0001c0002t0012g0005 a0001c0002t0012g0083 a0001c0002t0036g0012 a0001c0002t0037g0086 a0001c0002t0037g0087 a0001c0002t0071g0012	20	392	0.0510	-60	c.-34 others(71): Show c.-3412_-3353delTAGCATATATATTATATATTAAAATATATGTAGC ATATATATTATATATTAAAATATATG	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3334		chr12	TogoVar
CRLF2_chrX_1185490_1217649	1198126	GGGAAGGC others(53): Show GGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCT CCCACCTCCCA	G G	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19011.hp2 NA19065.hp2 others(1): Show NA18999.hp1 NA19011.hp2 NA19065.hp2 NA19084.hp2	a0001 a0009 a0001 a0009	a0001c0008 a0001c0044 a0009c0037 a0001c0008 a0001c0044 a0009c0037	a0001c0008t0001 a0001c0044t0001 a0009c0037t0001 a0001c0008t0001 a0001c0044t0001 a0009c0037t0001	a0001c0008t0001g0141 a0001c0008t0001g0154 a0001c0044t0001g0153 others(1): Show a0001c0008t0001g0141 a0001c0008t0001g0154 a0001c0044t0001g0153 a0009c0037t0001g0136	4	167	0.0240	-60	c.646 others(75): Show c.646+376_646+435delTGGGAGGTGGGAGGGAGGGTGTCCTGCCTT CGAGGTGGGAGGGAGGGTGTCCTGCCTTCC	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CRLF2_chrX_1185490_1217649	1211493	ATAAGTGG others(53): Show ATAAGTGGATAAAAGTGTGGGTGAATGCATGGATAGATGGATGTATTGGT GGATGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0095	1	167	0.0060	-60	c.79+ others(75): Show c.79+1003_79+1062delCCCATCCATCCACCAATACATCCATCTATC CATGCATTCACCCACACTTTTATCCACTTA	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7			chrX	TogoVar
CRLF2_chrX_1185490_1217649	1211639	GGATGGAT others(53): Show GGATGGATGGATGGATAAGTGGATAAAAGTGTGGGTGAATGCATGGATGG ATGGATGTATT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0002 a0005c0026t0002	a0005c0026t0002g0102 a0005c0026t0002g0102	1	167	0.0060	-60	c.79+ others(73): Show c.79+857_79+916delAATACATCCATCCATCCATGCATTCACCCACA CTTTTATCCACTTATCCATCCATCCATC	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7			chrX	TogoVar
CROCC2_chr2_240901336_240998311	240985223	GGCACTCA others(53): Show GGCACTCACTCCACACACACACCCAGGCACTCACTCCACACACACACCCA GGCACTCCACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(92): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01257.hp2 HG01261.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02683.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0006 others(19): Show a0002 a0003 a0006 a0010 a0011 a0012 a0015 a0016 a0019 a0021 a0022 a0030 a0033 a0041 a0043 a0046 a0048 a0052 a0053 a0056 a0057 a0062	a0002c0002 a0002c0011 a0002c0012 others(25): Show a0002c0002 a0002c0011 a0002c0012 a0002c0033 a0002c0068 a0003c0003 a0006c0007 a0006c0046 a0010c0009 a0011c0045 a0012c0013 a0015c0016 a0016c0061 a0016c0092 a0019c0015 a0021c0019 a0022c0042 a0030c0053 a0033c0081 a0041c0058 a0043c0059 a0046c0069 a0048c0066 a0052c0072 a0053c0037 a0056c0032 a0057c0031 a0062c0095	a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 others(30): Show a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 a0002c0012t0002 a0002c0033t0002 a0002c0068t0001 a0003c0003t0001 a0003c0003t0002 a0006c0007t0001 a0006c0007t0003 a0006c0046t0001 a0010c0009t0001 a0010c0009t0002 a0010c0009t0005 a0011c0045t0002 a0012c0013t0001 a0015c0016t0002 a0016c0061t0002 a0016c0092t0001 a0019c0015t0001 a0021c0019t0001 a0022c0042t0002 a0030c0053t0001 a0033c0081t0001 a0041c0058t0002 a0043c0059t0002 a0046c0069t0001 a0048c0066t0002 a0052c0072t0002 a0053c0037t0001 a0056c0032t0001 a0057c0031t0001 a0062c0095t0002	a0002c0002t0001g0060 a0002c0002t0001g0131 a0002c0002t0001g0132 others(91): Show a0002c0002t0001g0060 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0176 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0186 a0002c0002t0002g0235 a0002c0002t0002g0245 a0002c0002t0002g0249 a0002c0002t0002g0252 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0264 a0002c0002t0002g0268 a0002c0002t0002g0323 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0002t0002g0336 a0002c0011t0002g0243 a0002c0011t0002g0297 a0002c0011t0002g0324 a0002c0011t0002g0332 a0002c0012t0002g0250 a0002c0033t0002g0291 a0002c0068t0001g0078 a0003c0003t0001g0015 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0035 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0049 a0003c0003t0001g0149 a0003c0003t0001g0158 a0003c0003t0002g0237 a0003c0003t0002g0255 a0003c0003t0002g0256 a0003c0003t0002g0258 a0003c0003t0002g0272 a0003c0003t0002g0289 a0006c0007t0001g0094 a0006c0007t0001g0193 a0006c0007t0001g0194 a0006c0007t0001g0195 a0006c0007t0001g0199 a0006c0007t0001g0204 a0006c0007t0001g0212 a0006c0007t0001g0215 a0006c0007t0001g0216 a0006c0007t0001g0217 a0006c0007t0001g0221 a0006c0007t0001g0224 a0006c0007t0003g0209 a0006c0046t0001g0228 a0010c0009t0001g0051 a0010c0009t0001g0056 a0010c0009t0001g0076 a0010c0009t0001g0087 a0010c0009t0001g0089 a0010c0009t0001g0090 a0010c0009t0001g0091 a0010c0009t0001g0092 a0010c0009t0001g0101 a0010c0009t0001g0225 a0010c0009t0002g0005 a0010c0009t0002g0290 a0010c0009t0005g0001 a0011c0045t0002g0320 a0012c0013t0001g0106 a0012c0013t0001g0124 a0015c0016t0002g0246 a0016c0061t0002g0307 a0016c0092t0001g0113 a0019c0015t0001g0014 a0019c0015t0001g0028 a0019c0015t0001g0108 a0021c0019t0001g0227 a0022c0042t0002g0282 a0030c0053t0001g0071 a0033c0081t0001g0048 a0041c0058t0002g0309 a0043c0059t0002g0295 a0046c0069t0001g0187 a0048c0066t0002g0269 a0052c0072t0002g0239 a0053c0037t0001g0205 a0056c0032t0001g0104 a0057c0031t0001g0107 a0062c0095t0002g0298	95	350	0.2714	-60	c.455 others(79): Show c.4551+2195_4551+2254delGCACTCACTCCACACACACACCCAGG CACTCACTCCACACACACACCCAGGCACTCCACA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240985351	GGCACTCA others(53): Show GGCACTCACTCCACACACAAACCCAGGCACTCACTCCACACACACACCCA GGCACTCCACA	G G	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19056.hp1 NA18984.hp1 NA19056.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0013 a0007c0006t0001g0088 a0007c0006t0001g0013 a0007c0006t0001g0088	2	350	0.0057	-60	c.455 others(79): Show c.4551+2323_4551+2382delGCACTCACTCCACACACAAACCCAGG CACTCACTCCACACACACACCCAGGCACTCCACA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31			chr2	TogoVar
CSAD_chr12_53152663_53185925	53184116	TGTGTGTG others(53): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCTCT GAAGCTAAGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	334	0.0030	-60	c.-35 others(71): Show c.-3535_-3476delCCCTTAGCTTCAGAGCGCGCGCGCGCACACACAC ACACACACACACACACACACACACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3192		chr12	TogoVar
CSMD1_chr8_2930361_4999914	3338145	TGCTAAAA others(53): Show TGCTAAAACCAGCCACAAGACACAACGTATTTGATATCTGAATCCAGTTG TTGAACCACAC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0091 a0002c0091	a0002c0091t0002 a0002c0091t0002	a0002c0091t0002g0114 a0002c0091t0002g0114	1	126	0.0079	-60	c.363 others(79): Show c.3631+5089_3631+5148delGTGTGGTTCAACAACTGGATTCAGAT ATCAAATACGTTGTGTCTTGTGGCTGGTTTTAGC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3772524	CACATATA others(53): Show CACATATATACATATATACACATATATACATATATACATATATATACATA TATACACATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG02056.hp1 others(5): Show HG00423.hp1 HG00438.hp2 HG02056.hp1 HG02129.hp2 HG03710.hp1 NA18971.hp2 NA18982.hp2 NA18984.hp2	a0001 a0023 a0025 a0001 a0023 a0025	a0001c0002 a0001c0003 a0001c0005 others(5): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0081 a0023c0095 a0025c0096	a0001c0002t0002 a0001c0003t0013 a0001c0005t0002 others(5): Show a0001c0002t0002 a0001c0003t0013 a0001c0005t0002 a0001c0006t0060 a0001c0007t0032 a0001c0081t0037 a0023c0095t0002 a0025c0096t0067	a0001c0002t0002g0083 a0001c0003t0013g0026 a0001c0005t0002g0111 others(5): Show a0001c0002t0002g0083 a0001c0003t0013g0026 a0001c0005t0002g0111 a0001c0006t0060g0103 a0001c0007t0032g0033 a0001c0081t0037g0030 a0023c0095t0002g0124 a0025c0096t0067g0116	8	126	0.0635	-60	c.819 others(79): Show c.819-18542_819-18483delATATGTGTATATATGTATATATATGT ATATATGTATATATGTGTATATATGTATATATGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4295094	ACACATAT others(53): Show ACACATATAATCTTAAGATTACACACATATAATCTTAAGATTATATAATC TTAAGATTACG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18522.hp2 NA18995.hp2 others(2): Show HG02615.hp1 NA18522.hp2 NA18995.hp2 NA19090.hp1 NA19240.hp1	a0001 a0002 a0026 others(1): Show a0001 a0002 a0026 a0039	a0001c0085 a0001c0102 a0002c0072 others(2): Show a0001c0085 a0001c0102 a0002c0072 a0026c0082 a0039c0009	a0001c0085t0020 a0001c0102t0005 a0002c0072t0003 others(2): Show a0001c0085t0020 a0001c0102t0005 a0002c0072t0003 a0026c0082t0052 a0039c0009t0001	a0001c0085t0020g0060 a0001c0102t0005g0034 a0002c0072t0003g0066 others(2): Show a0001c0085t0020g0060 a0001c0102t0005g0034 a0002c0072t0003g0066 a0026c0082t0052g0097 a0039c0009t0001g0002	5	126	0.0397	-60	c.415 others(81): Show c.415+124799_415+124858delCGTAATCTTAAGATTATATAATCT TAAGATTATATGTGTGTAATCTTAAGATTATATGTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4761852	TATCTATC others(53): Show TATCTATCTATCTATCTATCTATCTATCTATCTATCTACCTACCTATCTA TCTATCTATCA	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0109 a0001c0109	a0001c0109t0038 a0001c0109t0038	a0001c0109t0038g0013 a0001c0109t0038g0013	1	126	0.0079	-60	c.86- others(79): Show c.86-124354_86-124295delTGATAGATAGATAGATAGGTAGGTAG ATAGATAGATAGATAGATAGATAGATAGATAGAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920882	AAAAGAAA others(53): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGA GAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp1 HG02922.hp1 others(2): Show HG02257.hp2 HG02647.hp1 HG02922.hp1 HG03098.hp1 HG03540.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0002 a0002c0015 a0002c0075 others(2): Show a0001c0002 a0002c0015 a0002c0075 a0003c0058 a0015c0062	a0001c0002t0028 a0002c0015t0021 a0002c0075t0026 others(2): Show a0001c0002t0028 a0002c0015t0021 a0002c0075t0026 a0003c0058t0057 a0015c0062t0056	a0001c0002t0028g0005 a0002c0015t0021g0008 a0002c0075t0026g0051 others(2): Show a0001c0002t0028g0005 a0002c0015t0021g0008 a0002c0075t0026g0051 a0003c0058t0057g0117 a0015c0062t0056g0062	5	126	0.0397	-60	c.85+ others(77): Show c.85+73390_85+73449delCTTTCTTTCTCTCTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113272459	AGGGGTTT others(53): Show AGGGGTTTCTGCTTTTGCAATTTCATTTTTCTCTTGCCAGCACCATGTAA GAAGTGTGTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03139.hp1 HG01081.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0004 a0001c0024t0002 a0001c0001t0004 a0001c0024t0002	a0001c0001t0004g0042 a0001c0024t0002g0024 a0001c0001t0004g0042 a0001c0024t0002g0024	2	80	0.0250	-60	c.514 others(77): Show c.514+6073_514+6132delAAACACACTTCTTACATGGTGCTGGCAA GAGAAAAATGAAATTGCAAAAGCAGAAACCCC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	3/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542612	ATATATAT others(53): Show ATATATATATATATATATATATATATATGTATATATATATATATATATAT ATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03209.hp1 HG01243.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0040 a0001c0001t0038 a0001c0001t0040	a0001c0001t0038g0028 a0001c0001t0040g0029 a0001c0001t0038g0028 a0001c0001t0040g0029	2	390	0.0051	-60	c.230 others(77): Show c.230+7403_230+7462delCATATATATATATATATATATATATATA TATACATATATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G2_chr19_1936172_1986338	1967673	CTCCTCCC others(53): Show CTCCTCCCTCCTCCCCAGGCTGCCCCCACCACCCTTCAGTTCTGCAGGTG GGGCTCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01256.hp2 HG01981.hp1 others(11): Show HG01167.hp2 HG01256.hp2 HG01981.hp1 HG02056.hp1 HG02293.hp2 HG03491.hp2 HG03492.hp2 NA18939.hp2 NA18942.hp1 NA18963.hp1 NA18967.hp1 NA19002.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0073 a0001c0001t0001g0185 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0073 a0001c0001t0001g0185 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0371	14	382	0.0367	-60	c.-26 others(79): Show c.-265-1808_-265-1749delACCACCCTTCAGTTCTGCAGGTGGGG CTCCTCCTTCCTCCCTCCTCCCCAGGCTGCCCCC	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1968182	GGGGCTCC others(53): Show GGGGCTCCTCCCTCCTCCCTCCTCCCCAGGCTGCCCCAGACCACCCTTCA GTTCTGCAGGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp2 HG02895.hp1 others(5): Show HG02486.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 NA18967.hp2 NA18970.hp1 NA19060.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0241 others(5): Show a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0266 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343	8	382	0.0209	-60	c.-26 others(79): Show c.-265-1322_-265-1263delCTCCTCCCTCCTCCCTCCTCCCCAGG CTGCCCCAGACCACCCTTCAGTTCTGCAGGTGGG	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CST7_chr20_24944269_24964928	24961582	GGGAATTA others(53): Show GGGAATTAACCATCAGACTCCCAACTCTCTTCCCCCAATATGGGGCCTGA CCAGCACTGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02965.hp2 HG03098.hp2 HG02572.hp1 HG02965.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0010 a0001c0001t0012	a0001c0001t0010g0102 a0001c0001t0010g0104 a0001c0001t0012g0103 a0001c0001t0010g0102 a0001c0001t0010g0104 a0001c0001t0012g0103	3	350	0.0086	-60	c.18 others(71): Show c.1871_*1930delGGAATTAACCATCAGACTCCCAACTCTCTTCCCC CAATATGGGGCCTGACCAGCACTGGC	CST7	ENSG00000077984.6	transcript	ENST00000480798.2	protein_coding		1655		chr20	TogoVar

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