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
CNTN5_chr11_99015949_100363885	99475003	CTAGACCA others(29): Show CTAGACCATGTAAGATCCACCCTCATGAATGTGGGAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01243.hp1 others(6): Show HG00738.hp1 HG01099.hp2 HG01243.hp1 HG02109.hp2 HG02257.hp1 HG02886.hp1 HG02965.hp2 HG03471.hp2 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0011	a0001c0001t0003 a0001c0001t0004 a0002c0002t0003 others(4): Show a0001c0001t0003 a0001c0001t0004 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0003c0003t0002 a0003c0011t0019	a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0004g0029 others(6): Show a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0004g0029 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0004g0039 a0002c0002t0008g0019 a0003c0003t0002g0027 a0003c0011t0019g0059	9	63	0.1429	-36	c.-70 others(55): Show c.-70-81010_-70-80975delATGAATGTGGGATTAGACCATGTAAG ATCCACCCTC	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99817500	CTTTTCAA others(29): Show CTTTTCAAGTTTTTCATTGATTATTCTTATCTGGCTT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0023 a0010c0007t0023	a0010c0007t0023g0046 a0010c0007t0023g0046	1	66	0.0152	-36	c.56- others(51): Show c.56-2042_56-2007delTTTCAAGTTTTTCATTGATTATTCTTATCT GGCTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1098759	CACACACA others(29): Show CACACACACACACACACACACACACACACACATATAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01884.hp1 others(48): Show HG01167.hp2 HG01169.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0019 a0001c0021 a0001c0023 a0001c0025 a0002c0011 a0002c0017 a0003c0015 a0005c0027	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(17): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0010t0001 a0001c0013t0001 a0001c0019t0001 a0001c0021t0001 a0001c0023t0001 a0001c0025t0001 a0002c0011t0001 a0002c0017t0001 a0003c0015t0001 a0005c0027t0001	a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0002t0001g0209 others(48): Show a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0002t0001g0209 a0001c0002t0004g0228 a0001c0002t0009g0206 a0001c0003t0001g0219 a0001c0005t0001g0163 a0001c0005t0001g0164 a0001c0005t0001g0180 a0001c0005t0001g0181 a0001c0005t0001g0182 a0001c0005t0001g0188 a0001c0005t0001g0189 a0001c0005t0001g0193 a0001c0005t0001g0196 a0001c0005t0001g0208 a0001c0005t0001g0215 a0001c0005t0001g0230 a0001c0005t0004g0194 a0001c0006t0001g0162 a0001c0006t0001g0183 a0001c0006t0001g0184 a0001c0006t0001g0185 a0001c0006t0001g0187 a0001c0006t0001g0195 a0001c0006t0001g0200 a0001c0006t0001g0201 a0001c0006t0001g0210 a0001c0006t0001g0213 a0001c0006t0001g0216 a0001c0006t0001g0229 a0001c0007t0001g0012 a0001c0008t0001g0006 a0001c0008t0001g0197 a0001c0008t0001g0211 a0001c0008t0001g0212 a0001c0008t0001g0214 a0001c0010t0001g0010 a0001c0010t0001g0207 a0001c0013t0001g0199 a0001c0013t0001g0205 a0001c0019t0001g0202 a0001c0021t0001g0231 a0001c0023t0001g0186 a0001c0025t0001g0192 a0002c0011t0001g0007 a0002c0011t0001g0217 a0002c0017t0001g0179 a0003c0015t0001g0008 a0003c0015t0001g0009 a0005c0027t0001g0191	51	226	0.2257	-36	c.-83 others(53): Show c.-83+5641_-83+5676delCACACACACACACACACACACACACACA CATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1161239	GATATATG others(29): Show GATATATGATTATATATATATGATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp1 HG00738.hp2 others(62): Show HG00609.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01496.hp2 HG01884.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03834.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18961.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18980.hp1 NA19002.hp2 NA19003.hp1 NA19065.hp1 NA19065.hp2 NA19084.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0002c0014 a0003c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(17): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0004t0001 a0001c0004t0005 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0010t0001 a0001c0013t0001 a0001c0019t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0002c0014t0001 a0003c0015t0001	a0001c0001t0001g0053 a0001c0001t0001g0072 a0001c0001t0001g0079 others(62): Show a0001c0001t0001g0053 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0002t0001g0028 a0001c0002t0001g0051 a0001c0002t0001g0068 a0001c0002t0001g0117 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0153 a0001c0002t0002g0017 a0001c0002t0005g0132 a0001c0003t0001g0027 a0001c0003t0001g0098 a0001c0003t0001g0124 a0001c0003t0001g0166 a0001c0003t0001g0219 a0001c0004t0001g0022 a0001c0004t0001g0023 a0001c0004t0001g0026 a0001c0004t0001g0050 a0001c0004t0001g0052 a0001c0004t0001g0058 a0001c0004t0001g0071 a0001c0004t0001g0085 a0001c0004t0001g0119 a0001c0004t0001g0134 a0001c0004t0001g0136 a0001c0004t0001g0146 a0001c0004t0001g0158 a0001c0004t0005g0089 a0001c0005t0001g0005 a0001c0005t0001g0164 a0001c0005t0001g0180 a0001c0005t0001g0182 a0001c0005t0001g0208 a0001c0005t0001g0215 a0001c0005t0001g0230 a0001c0006t0001g0036 a0001c0006t0001g0090 a0001c0006t0001g0187 a0001c0006t0001g0200 a0001c0006t0001g0201 a0001c0006t0001g0229 a0001c0007t0001g0012 a0001c0008t0001g0067 a0001c0008t0001g0123 a0001c0008t0001g0197 a0001c0008t0001g0211 a0001c0008t0001g0212 a0001c0008t0001g0214 a0001c0008t0001g0218 a0001c0010t0001g0010 a0001c0010t0001g0207 a0001c0013t0001g0205 a0001c0019t0001g0202 a0001c0021t0001g0231 a0001c0022t0001g0081 a0001c0023t0001g0186 a0001c0024t0001g0069 a0002c0014t0001g0220 a0003c0015t0001g0008 a0003c0015t0001g0009	65	230	0.2826	-36	c.55+ others(53): Show c.55+13177_55+13212delATATATGATTATATATATATGATATATA TATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22			chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146457481	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG02630.hp1 others(5): Show HG01891.hp1 HG02451.hp1 HG02630.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03098.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0001c0012 others(1): Show a0001c0002 a0001c0004 a0001c0012 a0003c0014	a0001c0002t0001 a0001c0004t0003 a0001c0004t0005 others(2): Show a0001c0002t0001 a0001c0004t0003 a0001c0004t0005 a0001c0012t0004 a0003c0014t0021	a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0021 others(5): Show a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0005g0004 a0001c0012t0004g0026 a0003c0014t0021g0022	8	9	0.8889	-36	c.98- others(55): Show c.98-316770_98-316735delTATATATATATATATATATATATATA TATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147225774	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19030.hp2 HG02486.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0007 a0002c0016t0004 a0001c0001t0007 a0002c0016t0004	a0001c0001t0007g0020 a0002c0016t0004g0024 a0001c0001t0007g0020 a0002c0016t0004g0024	2	39	0.0513	-36	c.134 others(57): Show c.1349-74359_1349-74324delGGAAGGAAGGAAGGAAGGAAAGAA AGAAAGAAGGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147347421	TATATATA others(29): Show TATATATATATATATATATGCATATATATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG02896.hp2 others(1): Show HG01891.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0006 a0001c0002t0002 a0001c0004t0003 a0001c0001t0006 a0001c0002t0002 a0001c0004t0003	a0001c0001t0006g0009 a0001c0002t0002g0013 a0001c0004t0003g0035 others(1): Show a0001c0001t0006g0009 a0001c0002t0002g0013 a0001c0004t0003g0035 a0001c0004t0003g0036	4	40	0.1000	-36	c.149 others(57): Show c.1498+47176_1498+47211delATATATATATGCATATATATATAT ATGCATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76397938	TTATATAC others(29): Show TTATATACATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02257.hp1 HG02698.hp1 others(3): Show HG01074.hp2 HG02257.hp1 HG02698.hp1 HG03195.hp1 HG03453.hp1 HG03516.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0017	a0001c0001 a0002c0014 a0006c0009 others(1): Show a0001c0001 a0002c0014 a0006c0009 a0017c0045	a0001c0001t0001 a0001c0001t0002 a0002c0014t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0014t0006 a0006c0009t0004 a0017c0045t0014	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0002g0177 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0002g0177 a0002c0014t0006g0269 a0006c0009t0004g0273 a0017c0045t0014g0075	6	78	0.0769	-36	c.391 others(55): Show c.391-29507_391-29472delCATATATATATATATATATATATATA TATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124860416	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0051 a0001c0002t0019g0051	1	59	0.0169	-36	c.321 others(55): Show c.3218-4854_3218-4819delTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTRL_chr9_121069955_121182610	121092535	ATATATAT others(29): Show ATATATATTATATATATCTATATATATAATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03225.hp2 HG02895.hp1 HG03225.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0138 a0004c0007t0001g0139 a0004c0007t0001g0138 a0004c0007t0001g0139	2	320	0.0063	-36	c.348 others(53): Show c.348+2138_348+2173delTATATATATCTATATATATAATATATAT CTATATAT	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL13A1_chr10_69796906_69964144	69936092	GGAGGGAA others(29): Show GGAGGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0001 a0002c0030t0001	a0002c0030t0001g0309 a0002c0030t0001g0309	1	322	0.0031	-36	c.177 others(53): Show c.1771-661_1771-626delGGGAAGGGAGGAAGGAAGGAAGGAAGGA AGGAAAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120348173	ATATATAT others(29): Show ATATATATATGAAGCATATATAAAGCATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	101	0.0099	-36	c.507 others(55): Show c.5077+2718_5077+2753delGTATATATATGAAGCATATATAAAGC ATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL18A1_chr21_45400165_45518720	45443084	TGGTGCTG others(29): Show TGGTGCTGATGTGGGCGGCGGTGCTGGTGTGGGCGGC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	290	0.0034	-36	c.107 others(55): Show c.107-25150_107-25115delATGTGGGCGGCGGTGCTGGTGTGGGC GGCGGTGCTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45443092	ATGTGGGC others(29): Show ATGTGGGCGGCGGTGCTGGTGTGGGCGGCGGTGCTGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(65): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01361.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18944.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18975.hp1 NA18983.hp1 NA18999.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19064.hp2 NA19088.hp2 NA20905.hp1 NA20905.hp2	a0001 a0004 a0005 others(8): Show a0001 a0004 a0005 a0006 a0007 a0011 a0016 a0022 a0023 a0025 a0026	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0025 a0001c0043 a0001c0044 a0001c0045 a0001c0051 a0001c0052 a0001c0066 a0001c0079 a0004c0033 a0005c0053 a0005c0069 a0006c0016 a0007c0018 a0011c0049 a0016c0040 a0022c0046 a0023c0047 a0025c0042 a0026c0056	a0001c0001t0001 a0001c0002t0002 a0001c0002t0012 others(30): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0012 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0005t0002 a0001c0007t0002 a0001c0009t0001 a0001c0010t0002 a0001c0010t0006 a0001c0011t0001 a0001c0015t0001 a0001c0025t0002 a0001c0043t0006 a0001c0044t0001 a0001c0045t0001 a0001c0051t0001 a0001c0052t0002 a0001c0066t0005 a0001c0079t0008 a0004c0033t0001 a0005c0053t0001 a0005c0069t0002 a0006c0016t0001 a0007c0018t0005 a0011c0049t0001 a0016c0040t0001 a0022c0046t0004 a0023c0047t0004 a0025c0042t0001 a0026c0056t0001	a0001c0001t0001g0038 a0001c0001t0001g0122 a0001c0001t0001g0194 others(65): Show a0001c0001t0001g0038 a0001c0001t0001g0122 a0001c0001t0001g0194 a0001c0002t0002g0238 a0001c0002t0012g0088 a0001c0003t0001g0252 a0001c0004t0001g0008 a0001c0004t0001g0059 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0079 a0001c0004t0001g0140 a0001c0004t0001g0149 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0181 a0001c0004t0001g0196 a0001c0004t0001g0224 a0001c0004t0001g0253 a0001c0004t0001g0286 a0001c0004t0001g0288 a0001c0004t0003g0265 a0001c0004t0008g0125 a0001c0005t0002g0146 a0001c0007t0002g0056 a0001c0007t0002g0133 a0001c0007t0002g0165 a0001c0007t0002g0197 a0001c0007t0002g0210 a0001c0007t0002g0223 a0001c0009t0001g0022 a0001c0009t0001g0127 a0001c0009t0001g0151 a0001c0009t0001g0247 a0001c0010t0002g0046 a0001c0010t0002g0138 a0001c0010t0002g0152 a0001c0010t0006g0014 a0001c0011t0001g0009 a0001c0011t0001g0177 a0001c0011t0001g0178 a0001c0011t0001g0187 a0001c0015t0001g0128 a0001c0015t0001g0172 a0001c0015t0001g0202 a0001c0025t0002g0132 a0001c0025t0002g0147 a0001c0043t0006g0245 a0001c0044t0001g0002 a0001c0045t0001g0047 a0001c0051t0001g0248 a0001c0052t0002g0055 a0001c0066t0005g0036 a0001c0079t0008g0189 a0004c0033t0001g0121 a0005c0053t0001g0061 a0005c0069t0002g0060 a0006c0016t0001g0062 a0007c0018t0005g0045 a0007c0018t0005g0110 a0007c0018t0005g0112 a0011c0049t0001g0198 a0016c0040t0001g0095 a0022c0046t0004g0164 a0023c0047t0004g0163 a0025c0042t0001g0035 a0026c0056t0001g0091	68	276	0.2464	-36	c.107 others(55): Show c.107-25107_107-25072delCGGCGGTGCTGGTGTGGGCGGCGGTG CTGGTGTGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56121511	TGTATATA others(29): Show TGTATATATATATACATATACATATATATGTATATTC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0202 a0003c0005t0007g0202	1	262	0.0038	-36	c.175 others(55): Show c.1758+2515_1758+2550delGAATATACATATATATGTATATGTAT ATATATATAC	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	16/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138742807	GGTGATGG others(29): Show GGTGATGGTGGAGTTGATGATGATGGTAGTAGTGATT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02717.hp1 HG01109.hp2 HG02717.hp1	a0001 a0001	a0001c0008 a0001c0014 a0001c0008 a0001c0014	a0001c0008t0002 a0001c0014t0001 a0001c0008t0002 a0001c0014t0001	a0001c0008t0002g0091 a0001c0014t0001g0120 a0001c0008t0002g0091 a0001c0014t0001g0120	2	156	0.0128	-36	c.208 others(55): Show c.2086-5266_2086-5231delAATCACTACTACCATCATCATCAACT CCACCATCAC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	22/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178269330	TGTATCCA others(29): Show TGTATCCATCCATCCATCCACCCACCCACCCATCCAC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02071.hp2 HG02523.hp1 others(1): Show HG01168.hp1 HG02071.hp2 HG02523.hp1 HG03139.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0003 a0001c0001t0004 a0005c0008t0002 a0001c0001t0003 a0001c0001t0004 a0005c0008t0002	a0001c0001t0003g0123 a0001c0001t0004g0039 a0001c0001t0004g0193 others(1): Show a0001c0001t0003g0123 a0001c0001t0004g0039 a0001c0001t0004g0193 a0005c0008t0002g0050	4	236	0.0169	-36	c.469 others(51): Show c.469-610_469-575delGTGGATGGGTGGGTGGGTGGATGGATGGAT GGATAC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	6/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178302157	CGGAGCAC others(29): Show CGGAGCACAGCTTCAATGCTGCACCTCTGTGTGTGCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 HG02451.hp1 others(19): Show HG01243.hp2 HG02257.hp2 HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 NA18522.hp1 NA18906.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0002c0013 a0003c0004 a0004c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(12): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0005t0001 a0002c0002t0001 a0002c0002t0009 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0008 a0002c0013t0003 a0003c0004t0002 a0003c0004t0003 a0004c0006t0003	a0001c0001t0003g0070 a0001c0001t0003g0159 a0001c0001t0003g0169 others(19): Show a0001c0001t0003g0070 a0001c0001t0003g0159 a0001c0001t0003g0169 a0001c0001t0004g0088 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0007g0008 a0001c0001t0007g0118 a0001c0005t0001g0007 a0002c0002t0001g0141 a0002c0002t0009g0225 a0002c0003t0002g0121 a0002c0003t0002g0140 a0002c0003t0003g0157 a0002c0003t0005g0131 a0002c0003t0005g0151 a0002c0003t0008g0231 a0002c0013t0003g0124 a0003c0004t0002g0005 a0003c0004t0002g0061 a0003c0004t0003g0220 a0004c0006t0003g0143	22	236	0.0932	-36	c.406 others(53): Show c.406+4682_406+4717delAGCACACACAGAGGTGCAGCATTGAAGC TGTGCTCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178403791	AGAAAAGA others(29): Show AGAAAAGAACAAATGCTTTTACGCAAACACCTTGATT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	236	0.0042	-36	c.362 others(55): Show c.362-96908_362-96873delAATCAAGGTGTTTGCGTAAAAGCATT TGTTCTTTTC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL25A1_chr4_108803725_109307658	109211274	CTATATAT others(29): Show CTATATATATATGAAACTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	61	0.0164	-36	c.367 others(55): Show c.367+89273_367+89308delTATATATATATATATATATAGTTTCA TATATATATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL4A3_chr2_227159624_227319792	227203372	TATACATA others(29): Show TATACATACATATATGTGTATATATGTGTATACATAC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	338	0.0030	-36	c.88- others(53): Show c.88-34592_88-34557delCATACATATATGTGTATATATGTGTATA CATACATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041763	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0267 a0002c0002t0002g0267	1	277	0.0036	-36	c.350 others(53): Show c.3505+349_3505+384delTTTCTTTCTTTCCCTTCCTTCCTTCCTT CCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041771	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGGGAAAGAAAGAAAGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0203 a0002c0002t0027g0203	1	245	0.0041	-36	c.350 others(53): Show c.3505+341_3505+376delTTCCTTTCTTTCTTTCTTTCCCTTCCTT CCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041775	GAAGGAAG others(29): Show GAAGGAAGGAAGGGAAAGAAAGAAAGAAAGGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0049 a0002c0002t0002g0049	1	247	0.0040	-36	c.350 others(53): Show c.3505+337_3505+372delTTTCTTCCTTTCTTTCTTTCTTTCCCTT CCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041779	GAAGGAAG others(29): Show GAAGGAAGGGAAAGAAAGAAAGAAAGGAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA19079.hp1 HG04115.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0212 a0002c0002t0002g0183 a0001c0001t0001g0212 a0002c0002t0002g0183	2	239	0.0084	-36	c.350 others(53): Show c.3505+333_3505+368delTTTCTTTCTTCCTTTCTTTCTTTCTTTC CCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL6A1_chr21_45976770_46010048	46005444	TAGGAAGA others(29): Show TAGGAAGAAGTCTTGGGAGGCTCCACCTTTGGGGCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02965.hp2 HG00423.hp2 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0006 a0002c0002t0008 a0001c0003t0006 a0002c0002t0008	a0001c0003t0006g0059 a0002c0002t0008g0118 a0001c0003t0006g0059 a0002c0002t0008g0118	2	109	0.0183	-36	c.14 others(47): Show c.1432_*1467delAGGAAGAAGTCTTGGGAGGCTCCACCTTTGGGGC AG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		397		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332070	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02293.hp1 HG01981.hp2 HG02293.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0001 a0016c0024t0001	a0016c0024t0001g0053 a0016c0024t0001g0054 a0016c0024t0001g0053 a0016c0024t0001g0054	2	195	0.0103	-36	c.932 others(55): Show c.9328+1344_9328+1379delATATATATATATATATATATATATAT ATATATATAT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237343512	CTCAAAAA others(29): Show CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18975.hp1 NA18952.hp2 NA18975.hp1	a0006 a0061 a0006 a0061	a0006c0007 a0061c0141 a0006c0007 a0061c0141	a0006c0007t0001 a0061c0141t0001 a0006c0007t0001 a0061c0141t0001	a0006c0007t0001g0286 a0061c0141t0001g0026 a0006c0007t0001g0286 a0061c0141t0001g0026	2	315	0.0063	-36	c.766 others(53): Show c.7668+802_7668+837delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG01243.hp1 others(34): Show HG00408.hp1 HG00408.hp2 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01993.hp2 HG02056.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03579.hp1 HG04184.hp2 HG04204.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18970.hp1 NA18984.hp2 NA18998.hp2 NA19011.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19081.hp1 NA19083.hp1 NA19087.hp2 NA19240.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0006 a0013 a0014 a0017 a0025 a0026 a0038 a0039 a0043	a0001c0002 a0001c0004 a0001c0037 others(19): Show a0001c0002 a0001c0004 a0001c0037 a0001c0040 a0001c0117 a0002c0110 a0003c0026 a0003c0082 a0003c0089 a0005c0017 a0006c0007 a0006c0064 a0006c0096 a0013c0013 a0014c0019 a0017c0036 a0017c0085 a0025c0114 a0026c0043 a0038c0083 a0039c0123 a0043c0107	a0001c0002t0001 a0001c0002t0005 a0001c0004t0001 others(21): Show a0001c0002t0001 a0001c0002t0005 a0001c0004t0001 a0001c0037t0001 a0001c0040t0001 a0001c0117t0001 a0002c0110t0001 a0003c0026t0001 a0003c0082t0001 a0003c0089t0001 a0005c0017t0001 a0005c0017t0002 a0006c0007t0001 a0006c0064t0002 a0006c0096t0001 a0013c0013t0001 a0014c0019t0001 a0017c0036t0001 a0017c0085t0001 a0025c0114t0001 a0026c0043t0001 a0038c0083t0001 a0039c0123t0002 a0043c0107t0001	a0001c0002t0001g0088 a0001c0002t0001g0092 a0001c0002t0001g0199 others(34): Show a0001c0002t0001g0088 a0001c0002t0001g0092 a0001c0002t0001g0199 a0001c0002t0001g0256 a0001c0002t0001g0318 a0001c0002t0005g0006 a0001c0004t0001g0151 a0001c0004t0001g0215 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0230 a0001c0037t0001g0025 a0001c0040t0001g0128 a0001c0040t0001g0234 a0001c0117t0001g0125 a0002c0110t0001g0074 a0003c0026t0001g0184 a0003c0082t0001g0195 a0003c0089t0001g0114 a0005c0017t0001g0129 a0005c0017t0002g0034 a0005c0017t0002g0046 a0005c0017t0002g0277 a0006c0007t0001g0271 a0006c0064t0002g0047 a0006c0096t0001g0153 a0013c0013t0001g0049 a0014c0019t0001g0294 a0017c0036t0001g0068 a0017c0036t0001g0152 a0017c0085t0001g0037 a0025c0114t0001g0119 a0026c0043t0001g0104 a0026c0043t0001g0106 a0038c0083t0001g0139 a0039c0123t0002g0107 a0043c0107t0001g0069	37	77	0.4805	-36	c.766 others(53): Show c.7668+800_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COLGALT2_chr1_183930834_184042728	183955655	TGAAGAAT others(29): Show TGAAGAATGTTTAGTATTATAAAAATTCAAAGTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp1 HG03579.hp2 others(1): Show HG02486.hp2 HG02886.hp1 HG03579.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0236 a0001c0001t0010g0296 a0001c0001t0010g0319 others(1): Show a0001c0001t0001g0236 a0001c0001t0010g0296 a0001c0001t0010g0319 a0001c0001t0010g0326	4	338	0.0118	-36	c.953 others(51): Show c.953-853_953-818delGAGGACTTTGAATTTTTATAATACTAAACA TTCTTC	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	6/11			chr1	TogoVar
COP1_chr1_175939831_176212286	176151353	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	82	0.0122	-36	c.763 others(53): Show c.763-2315_763-2280delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	5/19			chr1	TogoVar
COQ3_chr6_99364401_99399195	99378105	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp2 HG03453.hp1 others(1): Show HG02258.hp2 HG02922.hp2 HG03453.hp1 HG03486.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0059 a0005c0005t0003g0217 a0005c0005t0003g0218 others(1): Show a0005c0005t0003g0059 a0005c0005t0003g0217 a0005c0005t0003g0218 a0005c0005t0003g0219	4	274	0.0146	-36	c.387 others(51): Show c.387-656_387-621delATATATATATATATATATATATATATATAT ATATAT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	3/6			chr6	TogoVar
COQ8A_chr1_226935294_226992544	226944714	AGAGAGAG others(29): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00609.hp1 others(51): Show HG00423.hp2 HG00558.hp1 HG00609.hp1 HG01069.hp1 HG01071.hp1 HG01168.hp2 HG01175.hp1 HG01358.hp1 HG01952.hp1 HG01952.hp2 HG02040.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02922.hp2 HG03130.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp1 HG04199.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18972.hp2 NA18977.hp1 NA18983.hp2 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19007.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19084.hp1 NA19086.hp1 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0002c0004 a0002c0007 a0002c0013 a0005c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0003 a0001c0008t0001 a0002c0004t0003 a0002c0007t0003 a0002c0013t0003 a0005c0018t0011	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(44): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0002g0039 a0001c0001t0002g0104 a0001c0001t0002g0235 a0001c0001t0004g0001 a0001c0001t0004g0058 a0001c0001t0004g0074 a0001c0001t0004g0083 a0001c0001t0004g0143 a0001c0001t0004g0170 a0001c0003t0003g0048 a0001c0008t0001g0084 a0001c0008t0001g0085 a0001c0008t0001g0086 a0002c0004t0003g0021 a0002c0004t0003g0188 a0002c0007t0003g0044 a0002c0007t0003g0311 a0002c0007t0003g0312 a0002c0013t0003g0097 a0005c0018t0011g0127	54	410	0.1317	-36	c.-10 others(53): Show c.-10+4329_-10+4364delAGAGAGAGAGAGAGAGAGAGAGTGAGAG AGAGAGAG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226944728	AGAGAGAG others(29): Show AGAGAGAGAGAGAGAGAGAGAGTGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01934.hp2 HG02027.hp1 others(4): Show HG00609.hp2 HG01934.hp2 HG02027.hp1 HG02083.hp1 HG02165.hp2 NA18948.hp1 NA18971.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0009 a0003c0005 a0001c0002 a0002c0009 a0003c0005	a0001c0002t0003 a0002c0009t0009 a0003c0005t0005 a0001c0002t0003 a0002c0009t0009 a0003c0005t0005	a0001c0002t0003g0329 a0002c0009t0009g0046 a0003c0005t0005g0047 others(3): Show a0001c0002t0003g0329 a0002c0009t0009g0046 a0003c0005t0005g0047 a0003c0005t0005g0331 a0003c0005t0005g0332 a0003c0005t0005g0333	7	384	0.0182	-36	c.-10 others(53): Show c.-10+4343_-10+4378delAGAGAGAGTGAGAGAGAGAGAGTGAGAG AGAGAGAG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPA6_chr8_67417038_67751360	67607169	CTCTTCTT others(29): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02976.hp1 HG01261.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0094 a0002c0002t0001g0078 a0001c0001t0004g0094 a0002c0002t0001g0078	2	40	0.0500	-36	c.192 others(55): Show c.192+16971_192+17006delAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16906337	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0011 a0011	a0011c0090 a0011c0090	a0011c0090t0001 a0011c0090t0001	a0011c0090t0001g0254 a0011c0090t0001g0254	1	135	0.0074	-36	c.402 others(53): Show c.4027+579_4027+614delAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	30/41			chr19	TogoVar
CPEB3_chr10_92041692_92296078	92258625	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0197 a0001c0003t0001g0197	1	179	0.0056	-36	c.-11 others(55): Show c.-11-18300_-11-18265delATATATATATATATATATATATATAT ATATATATAT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	121047646	TTTCTTCT others(29): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00621.hp2 others(58): Show HG00408.hp1 HG00408.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01975.hp1 HG01978.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02280.hp1 HG02523.hp2 HG02572.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG04115.hp2 NA18522.hp2 NA18941.hp1 NA18952.hp2 NA18979.hp2 NA18998.hp1 NA18998.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19075.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0017 a0003c0005 a0004c0009 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0004t0001 a0002c0004t0002 a0002c0017t0001 a0003c0005t0001 a0004c0009t0001 a0007c0014t0002	a0001c0001t0001g0043 a0001c0001t0001g0071 a0001c0001t0001g0083 others(58): Show a0001c0001t0001g0043 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0138 a0001c0001t0004g0032 a0001c0001t0004g0041 a0001c0001t0004g0064 a0001c0001t0004g0077 a0001c0001t0005g0003 a0001c0001t0010g0121 a0001c0003t0001g0027 a0001c0003t0001g0030 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0002g0028 a0001c0003t0008g0031 a0001c0003t0008g0045 a0001c0003t0009g0117 a0002c0002t0001g0036 a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0093 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0109 a0002c0002t0001g0127 a0002c0002t0001g0140 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0084 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0139 a0002c0002t0004g0116 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0004t0001g0102 a0002c0004t0002g0095 a0002c0004t0002g0100 a0002c0004t0002g0101 a0002c0004t0002g0119 a0002c0017t0001g0091 a0003c0005t0001g0046 a0004c0009t0001g0029 a0007c0014t0002g0072	61	80	0.7625	-36	c.540 others(51): Show c.540+689_540+724delCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121047682	CTTCTTCT others(29): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	137	0.0073	-36	c.540 others(51): Show c.540+692_540+727delCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTTTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPLX1_chr4_779957_831129	826399	CGGGGCGG others(29): Show CGGGGCGGGGGCGGGGGTGGACCCGGGGGCGGGGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	387	0.0026	-36	c.-46 others(45): Show c.-469_-434delCGCCCCCGCCCCCGGGTCCACCCCCGCCCCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		271		chr4	TogoVar
CPLX1_chr4_779957_831129	826405	GGGGGCGG others(29): Show GGGGGCGGGGGTGGACCCGGGGGCGGGGGCGGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0090	1	405	0.0025	-36	c.-47 others(45): Show c.-475_-440delGCCCCCCGCCCCCGCCCCCGGGTCCACCCCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		277		chr4	TogoVar
CPNE4_chr3_131528569_132040014	131615889	TCTCACAC others(29): Show TCTCACACACACACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG03098.hp1 others(3): Show HG02572.hp2 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03516.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001	a0001c0001t0001g0027 a0001c0001t0002g0078 a0001c0002t0001g0058 others(3): Show a0001c0001t0001g0027 a0001c0001t0002g0078 a0001c0002t0001g0058 a0001c0003t0002g0071 a0001c0004t0001g0035 a0001c0004t0001g0055	6	67	0.0896	-36	c.682 others(55): Show c.682-28343_682-28308delTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGAG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	7/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132005328	TATATATA others(29): Show TATATATATATATATACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19083.hp2 NA18990.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0003 a0001c0001t0007g0004 a0001c0001t0006g0003 a0001c0001t0007g0004	2	92	0.0217	-36	c.-2+ others(53): Show c.-2+29203_-2+29238delGTGTGTGTGTGTGTGTGTGTGTATATAT ATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132005330	TATATATA others(29): Show TATATATATATATACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp2 NA18522.hp1 others(2): Show HG02486.hp2 HG02615.hp2 NA18522.hp1 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 others(2): Show a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0003t0002g0089	5	88	0.0568	-36	c.-2+ others(53): Show c.-2+29201_-2+29236delGTGTGTGTGTGTGTGTGTGTGTGTATAT ATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587745	CCCCCGTG others(29): Show CCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGG	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02818.hp2 HG01943.hp1 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0004 a0001c0007t0006 a0001c0002t0004 a0001c0007t0006	a0001c0002t0004g0139 a0001c0007t0006g0159 a0001c0002t0004g0139 a0001c0007t0006g0159	2	339	0.0059	-36	c.927 others(51): Show c.927+648_927+683delGTGTCACCCGCGTGTCACCCACAGAAACAC GGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPQ_chr8_96640242_97148501	96717024	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	16	0.0625	-36	c.-34 others(55): Show c.-34-67822_-34-67787delTATATATATATATATATATATATATA TATATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPXM2_chr10_123740639_123896807	123857542	CGATGGAA others(29): Show CGATGGAAGGCGGCGTGGAGATGGAAGGCGGCGTGGA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01071.hp2 others(55): Show HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01106.hp1 HG01192.hp2 HG01243.hp2 HG01884.hp2 HG01891.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG04184.hp1 HG04204.hp2 NA18943.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18968.hp2 NA18975.hp2 NA18979.hp1 NA18987.hp1 NA18995.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19074.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0014	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0017 a0001c0021 a0001c0027 a0002c0006 a0002c0034 a0002c0039 a0005c0012 a0005c0026 a0006c0016 a0006c0024 a0014c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0005t0009 a0001c0017t0001 a0001c0021t0001 a0001c0027t0001 a0002c0006t0004 a0002c0006t0007 a0002c0006t0011 a0002c0034t0004 a0002c0039t0007 a0005c0012t0014 a0005c0026t0011 a0006c0016t0013 a0006c0024t0001 a0014c0015t0014	a0001c0001t0001g0025 a0001c0001t0001g0108 a0001c0001t0001g0126 others(55): Show a0001c0001t0001g0025 a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0001g0238 a0001c0001t0001g0267 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0279 a0001c0001t0002g0288 a0001c0001t0003g0197 a0001c0002t0001g0130 a0001c0002t0001g0171 a0001c0002t0001g0194 a0001c0002t0001g0234 a0001c0002t0003g0089 a0001c0002t0003g0097 a0001c0002t0006g0092 a0001c0002t0006g0237 a0001c0002t0008g0149 a0001c0003t0001g0104 a0001c0003t0001g0133 a0001c0003t0001g0214 a0001c0003t0001g0236 a0001c0003t0002g0050 a0001c0003t0002g0075 a0001c0003t0002g0125 a0001c0004t0001g0084 a0001c0004t0001g0107 a0001c0004t0001g0159 a0001c0004t0001g0166 a0001c0004t0001g0192 a0001c0005t0001g0073 a0001c0005t0001g0280 a0001c0005t0001g0281 a0001c0005t0009g0230 a0001c0017t0001g0080 a0001c0021t0001g0105 a0001c0027t0001g0047 a0002c0006t0004g0013 a0002c0006t0004g0015 a0002c0006t0007g0010 a0002c0006t0007g0011 a0002c0006t0011g0006 a0002c0034t0004g0007 a0002c0039t0007g0012 a0005c0012t0014g0255 a0005c0026t0011g0001 a0006c0016t0013g0079 a0006c0024t0001g0074 a0014c0015t0014g0023	58	136	0.4265	-36	c.513 others(53): Show c.513+5036_513+5071delTCCACGCCGCCTTCCATCTCCACGCCGC CTTCCATC	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	3/13			chr10	TogoVar
CPZ_chr4_8587765_8624752	8621118	AGCAAGAA others(29): Show AGCAAGAATGATCTGGAGTGTTTGGGGAACATCTCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0001 a0015c0024t0001	a0015c0024t0001g0051 a0015c0024t0001g0051	1	440	0.0023	-36	c.15 others(47): Show c.1502_*1537delGCAAGAATGATCTGGAGTGTTTGGGGAACATCTC AC	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding		1367		chr4	TogoVar
CR1_chr1_207491157_207646765	207617590	TATATATA others(29): Show TATATATATATATATATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0281 a0002c0002t0001g0281	1	351	0.0028	-36	c.689 others(53): Show c.6890-479_6890-444delTATATATATATATATATATATAGAGAGA GAGAGAGA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617594	TATATATA others(29): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	330	0.0030	-36	c.689 others(53): Show c.6890-475_6890-440delTATATATATATATATATAGAGAGAGAGA GAGAGAGA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46		INFO_REALIGN_3_PRIME	chr1	TogoVar

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