Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ADSS1_chr14_104719229_104752310	104720513	CTCGTGTG others(60): Show CTCGTGTGGATGCTGCTGTGAACGTCTGCGTAGTCTCGTGTGGATGCTGC TGTGGACGTCTGCGTAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02818.hp1 HG03540.hp1 others(2): Show HG02257.hp2 HG02818.hp1 HG03540.hp1 NA18964.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0017 a0001c0002t0001g0144 a0001c0002t0001g0217 others(2): Show a0001c0001t0002g0017 a0001c0002t0001g0144 a0001c0002t0001g0217 a0001c0002t0001g0221 a0001c0002t0001g0222	5	402	0.0124	-67	c.-37 others(78): Show c.-3757_-3691delTCGTGTGGATGCTGCTGTGAACGTCTGCGTAGTC TCGTGTGGATGCTGCTGTGGACGTCTGCGTAGT	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3715		chr14	TogoVar
AKAP17A_chrX_1586604_1607520	1587681	CCTTCCCT others(60): Show CCTTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTC CCCTCCTCTCCCCTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0020 a0016c0026t0020	a0016c0026t0020g0114 a0016c0026t0020g0114	1	151	0.0066	-67	c.-41 others(78): Show c.-4107_-4041delCTTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTC CCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3922		chrX	TogoVar
AKIP1_chr11_8906189_8925079	8910642	TGTGTGTG others(60): Show TGTGTGTGTGGACACGGGTTGTCGCTATGTTGCCTACCTAGCTGGTACCC CATAACCACTCCTGGCTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18960.hp1 NA18963.hp1 others(3): Show NA18952.hp2 NA18960.hp1 NA18963.hp1 NA19003.hp1 NA19078.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0083 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0083	6	420	0.0143	-67	c.-58 others(76): Show c.-587_-521delGTGTGTGTGGACACGGGTTGTCGCTATGTTGCCTAC CTAGCTGGTACCCCATAACCACTCCTGGCTA	AKIP1	ENSG00000166452.12	transcript	ENST00000309377.9	protein_coding		546		chr11	TogoVar
ALOXE3_chr17_8090900_8123514	8107898	AAAGAAAG others(60): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01070.hp1 others(13): Show HG00280.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01175.hp2 HG02523.hp1 HG02615.hp2 HG02647.hp2 HG03209.hp2 HG03239.hp2 HG04184.hp1 NA18947.hp1 NA18949.hp2 NA18993.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0002g0086 a0001c0001t0002g0141 a0001c0001t0002g0172 others(13): Show a0001c0001t0002g0086 a0001c0001t0002g0141 a0001c0001t0002g0172 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0270 a0001c0001t0002g0274 a0001c0001t0002g0294 a0001c0001t0002g0352 a0001c0001t0004g0379 a0001c0001t0004g0406 a0001c0002t0001g0084 a0001c0002t0001g0149 a0001c0002t0001g0250 a0001c0002t0001g0271 a0001c0002t0001g0323	16	422	0.0379	-67	c.168 others(84): Show c.1684+503_1684+569delCTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107927	AAGAAAGA others(60): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAGAGAGAGAG AGAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	422	0.0024	-67	c.168 others(84): Show c.1684+474_1684+540delCTTTCTTTCTTTCTCTCTCTCTCTCTCT CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ANO1_chr11_70073317_70194530	70121829	ACCTCTCT others(60): Show ACCTCTCTGTCTGTCTCTCTATCTCTGTCTCTCCATCTGCCTCTGTCTCT GTCTCTCCATCTCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(202): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18977.hp1 NA18977.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0010 a0011 a0014 a0015	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0011 a0001c0016 a0001c0017 a0001c0018 a0001c0029 a0002c0005 a0002c0009 a0003c0007 a0003c0010 a0003c0014 a0003c0019 a0004c0012 a0004c0023 a0006c0013 a0010c0028 a0011c0024 a0014c0021 a0015c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0010 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0007 a0001c0008t0004 a0001c0008t0012 a0001c0008t0020 a0001c0011t0001 a0001c0011t0019 a0001c0016t0001 a0001c0017t0004 a0001c0018t0001 a0001c0029t0001 a0002c0005t0003 a0002c0005t0005 a0002c0005t0011 a0002c0009t0011 a0003c0007t0001 a0003c0010t0001 a0003c0014t0001 a0003c0019t0001 a0004c0012t0001 a0004c0023t0001 a0006c0013t0001 a0010c0028t0001 a0011c0024t0001 a0014c0021t0003 a0015c0020t0001	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0033 others(202): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0004g0078 a0001c0001t0006g0046 a0001c0001t0009g0190 a0001c0001t0009g0191 a0001c0001t0009g0231 a0001c0001t0014g0223 a0001c0001t0017g0121 a0001c0001t0018g0071 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0045 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0151 a0001c0002t0001g0165 a0001c0002t0002g0184 a0001c0002t0002g0199 a0001c0002t0002g0201 a0001c0002t0002g0208 a0001c0002t0002g0225 a0001c0002t0002g0228 a0001c0002t0002g0230 a0001c0002t0002g0240 a0001c0002t0006g0064 a0001c0002t0010g0038 a0001c0002t0010g0183 a0001c0003t0001g0004 a0001c0003t0001g0008 a0001c0003t0001g0012 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0018 a0001c0003t0001g0021 a0001c0003t0001g0156 a0001c0003t0001g0158 a0001c0003t0001g0161 a0001c0003t0001g0260 a0001c0003t0001g0263 a0001c0003t0001g0265 a0001c0003t0001g0271 a0001c0003t0001g0274 a0001c0003t0001g0277 a0001c0003t0001g0291 a0001c0003t0001g0300 a0001c0004t0001g0007 a0001c0004t0001g0014 a0001c0004t0001g0020 a0001c0004t0001g0159 a0001c0004t0001g0164 a0001c0004t0001g0259 a0001c0004t0001g0272 a0001c0004t0001g0296 a0001c0004t0001g0297 a0001c0004t0001g0301 a0001c0006t0001g0025 a0001c0006t0001g0027 a0001c0006t0002g0226 a0001c0006t0002g0227 a0001c0006t0002g0249 a0001c0006t0006g0029 a0001c0006t0007g0023 a0001c0006t0007g0024 a0001c0006t0007g0155 a0001c0008t0004g0266 a0001c0008t0004g0275 a0001c0008t0012g0282 a0001c0008t0012g0286 a0001c0008t0020g0284 a0001c0011t0001g0160 a0001c0011t0001g0162 a0001c0011t0019g0253 a0001c0016t0001g0163 a0001c0016t0001g0293 a0001c0017t0004g0127 a0001c0017t0004g0166 a0001c0018t0001g0061 a0001c0018t0001g0125 a0001c0029t0001g0032 a0002c0005t0003g0077 a0002c0005t0003g0132 a0002c0005t0003g0137 a0002c0005t0003g0144 a0002c0005t0005g0200 a0002c0005t0005g0214 a0002c0005t0005g0238 a0002c0005t0011g0052 a0002c0009t0011g0295 a0003c0007t0001g0170 a0003c0007t0001g0174 a0003c0007t0001g0299 a0003c0010t0001g0168 a0003c0010t0001g0169 a0003c0010t0001g0179 a0003c0010t0001g0181 a0003c0014t0001g0176 a0003c0014t0001g0180 a0003c0019t0001g0172 a0004c0012t0001g0073 a0004c0012t0001g0082 a0004c0012t0001g0140 a0004c0023t0001g0285 a0006c0013t0001g0177 a0006c0013t0001g0178 a0010c0028t0001g0154 a0011c0024t0001g0287 a0014c0021t0003g0171 a0015c0020t0001g0175	205	302	0.6788	-67	c.898 others(84): Show c.898-2464_898-2398delCATCTCCCCCGCCTCTCTGTCTGTCTCT CTATCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTC	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANTXR2_chr4_79896146_80078229	80015856	GAAAGGAA others(60): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0098 a0001c0001t0051g0098	1	268	0.0037	-67	c.945 others(84): Show c.945+2975_945+3041delTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	11/16			chr4	TogoVar
ARHGAP30_chr1_161041946_161074891	161055868	AATAAAAT others(60): Show AATAAAATAAAATAAAAATAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0143 a0002c0003t0009g0143	1	390	0.0026	-67	c.345 others(82): Show c.345+453_345+519delATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTATTTTTATTTTATTTTAT	ARHGAP30	ENSG00000186517.14	transcript	ENST00000368013.8	protein_coding	3/11			chr1	TogoVar
ARHGEF10_chr8_1818926_1963641	1860316	GACCTTCC others(60): Show GACCTTCCCCCCTCCTCCTCCTCTCCATGCCCCCGATGTGGCCTGTGGTT CCGTAGAGTCCGGGCCTA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0035 a0001c0003t0035	a0001c0003t0035g0180 a0001c0003t0035g0180	1	363	0.0028	-67	c.481 others(82): Show c.481+192_481+258delCGGGCCTAACCTTCCCCCCTCCTCCTCCTC TCCATGCCCCCGATGTGGCCTGTGGTTCCGTAGAGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1860376	CGGGCCTA others(60): Show CGGGCCTAACCTTCCCCCCTCCTCCTCCTCTCCATGCCCCCGATGTGGCC TGTGGTTCCGTAGAGTCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02559.hp1 HG02630.hp2 others(3): Show HG00741.hp1 HG02559.hp1 HG02630.hp2 HG02717.hp2 HG03471.hp2 NA20300.hp2	a0001 a0011 a0012 a0001 a0011 a0012	a0001c0001 a0001c0005 a0001c0007 others(3): Show a0001c0001 a0001c0005 a0001c0007 a0001c0012 a0011c0090 a0012c0084	a0001c0001t0014 a0001c0005t0031 a0001c0007t0003 others(3): Show a0001c0001t0014 a0001c0005t0031 a0001c0007t0003 a0001c0012t0003 a0011c0090t0011 a0012c0084t0003	a0001c0001t0014g0361 a0001c0005t0031g0351 a0001c0007t0003g0346 others(3): Show a0001c0001t0014g0361 a0001c0005t0031g0351 a0001c0007t0003g0346 a0001c0012t0003g0347 a0011c0090t0011g0357 a0012c0084t0003g0356	6	363	0.0165	-67	c.481 others(82): Show c.481+199_481+265delAACCTTCCCCCCTCCTCCTCCTCTCCATGC CCCCGATGTGGCCTGTGGTTCCGTAGAGTCTGGGCCT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARID2_chr12_45724706_45913037	45766848	ATCCTAGC others(60): Show ATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAG GCAGAGATTGCGGTGAGC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp1 HG02965.hp1 others(1): Show HG02647.hp2 HG02886.hp1 HG02965.hp1 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0105 a0003c0004t0006g0106 a0003c0004t0006g0107 others(1): Show a0003c0004t0006g0105 a0003c0004t0006g0106 a0003c0004t0006g0107 a0003c0004t0006g0108	4	318	0.0126	-67	c.284 others(86): Show c.284+35535_284+35601delTCCTAGCTACTTGGGAGGCTGAGGCA GGAGAATCACTTGAACCTGGGAGGCAGAGATTGCGGTGAGC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20			chr12	TogoVar
ASB5_chr4_176208673_176274222	176218441	TATATATA others(60): Show TATATATATTTGTATGATATATAAATATATATATATTTGTATGATATATA AATATATATATTTGTATG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01993.hp2 HG02055.hp2 others(12): Show HG00639.hp1 HG01993.hp2 HG02055.hp2 HG02280.hp2 HG02451.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG03195.hp1 HG03225.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA20129.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0001 a0001c0002t0007 a0004c0008t0001 a0001c0001t0001 a0001c0002t0007 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0001t0001g0090 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0002t0007g0035 a0001c0002t0007g0064 a0001c0002t0007g0065 a0004c0008t0001g0095	15	410	0.0366	-67	c.671 others(84): Show c.671-1499_671-1433delCATACAAATATATATATTTATATATCAT ACAAATATATATATATTTATATATCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASMTL_chrX_1398139_1457909	1405243	CAGATGGT others(60): Show CAGATGGTAGATGATGGGTACGTAGATAGATGAGTGGATGGATAGATGGA TGTGATGGATGGGTGAAT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02683.hp2 HG01169.hp1 HG02683.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0013 a0002c0003t0001g0091 a0002c0003t0001g0013 a0002c0003t0001g0091	2	185	0.0108	-67	c.164 others(86): Show c.1646-1821_1646-1755delATTCACCCATCCATCACATCCATCTA TCCATCCACTCATCTATCTACGTACCCATCATCTACCATCT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
BAD_chr11_64264830_64289665	64271069	ACACACAC others(60): Show ACACACACACACACACACACCTGGAGTGGGATCTAGACTACAGATCCCAG CATGCCCTGTGACTCTCT	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18956.hp2 NA19085.hp2 NA18747.hp1 NA18956.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0248 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0001t0001g0248 a0001c0002t0001g0290 a0001c0002t0001g0291	3	388	0.0077	-67	c.378 others(82): Show c.378+477_378+543delAGAGAGTCACAGGGCATGCTGGGATCTGTA GTCTAGATCCCACTCCAGGTGTGTGTGTGTGTGTGTG	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BCL9_chr1_147536501_147631216	147541070	TGAGAGAG others(60): Show TGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAG GAGAGAGAGAGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 NA18953.hp2 NA21309.hp1 HG03195.hp1 NA18953.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0002c0002t0002 a0001c0001t0001 a0001c0001t0009 a0002c0002t0002	a0001c0001t0001g0130 a0001c0001t0009g0231 a0002c0002t0002g0238 a0001c0001t0001g0130 a0001c0001t0009g0231 a0002c0002t0002g0238	3	316	0.0095	-67	c.-10 others(78): Show c.-1081_-1015delGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGA	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		430		chr1	TogoVar
BDH1_chr3_197504783_197560968	197510617	TGTGTGTG others(60): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTACATGTGTGTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG03490.hp1 HG03492.hp1 others(1): Show HG01192.hp1 HG03490.hp1 HG03492.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0104 a0001c0001t0012 a0001c0001t0104	a0001c0001t0012g0005 a0001c0001t0012g0028 a0001c0001t0104g0295 a0001c0001t0012g0005 a0001c0001t0012g0028 a0001c0001t0104g0295	4	319	0.0125	-67	c.12 others(78): Show c.1211_*1277delCTTACACACATGTACACACACACACACACACACA CACACACACACACACACACACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1211		chr3	TogoVar
BDP1_chr5_71450651_71572820	71557654	GTAGAGAC others(60): Show GTAGAGACAGAGTTTGTATTTTTTGTAGAGACCATGTTGTCCAGCCTGGT CTTGAATGTATTTTTGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(132): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18957.hp1 NA18963.hp2 NA18966.hp1 NA18971.hp1 NA18974.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp2 NA19006.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0004 a0006 others(9): Show a0001 a0004 a0006 a0007 a0008 a0009 a0023 a0031 a0032 a0033 a0034 a0040	a0001c0001 a0001c0021 a0001c0022 others(16): Show a0001c0001 a0001c0021 a0001c0022 a0001c0026 a0001c0030 a0004c0004 a0006c0007 a0006c0024 a0006c0028 a0007c0006 a0008c0009 a0008c0048 a0009c0008 a0023c0046 a0031c0029 a0032c0025 a0033c0027 a0034c0023 a0040c0045	a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 others(22): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0021t0002 a0001c0022t0002 a0001c0026t0002 a0001c0030t0002 a0004c0004t0004 a0004c0004t0010 a0006c0007t0002 a0006c0024t0002 a0006c0028t0021 a0007c0006t0002 a0008c0009t0002 a0008c0048t0002 a0009c0008t0002 a0009c0008t0007 a0023c0046t0002 a0031c0029t0004 a0032c0025t0002 a0033c0027t0002 a0034c0023t0002 a0040c0045t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0014 others(130): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0011g0061 a0001c0001t0019g0016 a0001c0001t0020g0052 a0001c0001t0022g0013 a0001c0021t0002g0054 a0001c0022t0002g0081 a0001c0026t0002g0012 a0001c0030t0002g0031 a0004c0004t0004g0311 a0004c0004t0004g0312 a0004c0004t0004g0313 a0004c0004t0004g0314 a0004c0004t0004g0315 a0004c0004t0004g0316 a0004c0004t0004g0318 a0004c0004t0004g0319 a0004c0004t0004g0320 a0004c0004t0010g0321 a0004c0004t0010g0322 a0006c0007t0002g0006 a0006c0007t0002g0103 a0006c0007t0002g0105 a0006c0007t0002g0106 a0006c0007t0002g0107 a0006c0007t0002g0108 a0006c0007t0002g0109 a0006c0024t0002g0104 a0006c0028t0021g0008 a0007c0006t0002g0017 a0007c0006t0002g0042 a0007c0006t0002g0043 a0007c0006t0002g0044 a0007c0006t0002g0045 a0007c0006t0002g0046 a0007c0006t0002g0047 a0007c0006t0002g0079 a0008c0009t0002g0028 a0008c0009t0002g0053 a0008c0009t0002g0110 a0008c0009t0002g0111 a0008c0009t0002g0112 a0008c0009t0002g0113 a0008c0048t0002g0009 a0009c0008t0002g0007 a0009c0008t0002g0090 a0009c0008t0007g0095 a0009c0008t0007g0096 a0009c0008t0007g0097 a0009c0008t0007g0098 a0023c0046t0002g0027 a0031c0029t0004g0317 a0032c0025t0002g0066 a0033c0027t0002g0011 a0034c0023t0002g0069 a0040c0045t0002g0091	135	325	0.4154	-67	c.724 others(84): Show c.7240+730_7240+796delTAGAGACAGAGTTTGTATTTTTTGTAGA GACCATGTTGTCCAGCCTGGTCTTGAATGTATTTTTGTA	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	36/38			chr5	TogoVar
C13orf46_chr13_113948705_113979076	113952265	TGCTGTGT others(60): Show TGCTGTGTGGCCGCCGCTCCCGCCTGCCCAGGGCCGCTGTGTGGCCACCC CTCCGCCTGCCCAGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG01168.hp1 others(6): Show HG00140.hp2 HG00423.hp1 HG01168.hp1 HG02615.hp1 HG02896.hp2 HG02897.hp1 HG03471.hp2 HG03486.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0038 others(2): Show a0001c0001t0002 a0001c0001t0022 a0001c0001t0038 a0001c0001t0046 a0001c0001t0109	a0001c0001t0002g0054 a0001c0001t0022g0053 a0001c0001t0022g0168 others(4): Show a0001c0001t0002g0054 a0001c0001t0022g0053 a0001c0001t0022g0168 a0001c0001t0022g0182 a0001c0001t0038g0133 a0001c0001t0046g0238 a0001c0001t0109g0159	9	414	0.0217	-67	c.44 others(78): Show c.4441_*4507delGGCCCTGGGCAGGCGGAGGGGTGGCCACACAGCG GCCCTGGGCAGGCGGGAGCGGCGGCCACACAGC	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		1439		chr13	TogoVar
C1orf100_chr1_244347635_244394663	244350165	GTCTTACT others(60): Show GTCTTACTGCAAAGCATAGATTGTACTCATCAGGAACCAGCCAGTTTCAT TACTCTCATAATGACTTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18969.hp1 NA19060.hp2 others(2): Show NA18966.hp2 NA18969.hp1 NA19060.hp2 NA19083.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0367 a0001c0001t0001g0369 a0001c0001t0002g0362 others(2): Show a0001c0001t0001g0367 a0001c0001t0001g0369 a0001c0001t0002g0362 a0001c0001t0002g0365 a0001c0001t0002g0366	5	452	0.0111	-67	c.-25 others(78): Show c.-2582_-2516delTCTTACTGCAAAGCATAGATTGTACTCATCAGGA ACCAGCCAGTTTCATTACTCTCATAATGACTTC	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding		2469		chr1	TogoVar
C3_chr19_6672704_6725650	6700523	GTAATATG others(60): Show GTAATATGATATATTATATATGTAATATATAATATATGTAATATATGATA TATTATATATGTAATATA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0152 a0001c0006t0001g0152	1	370	0.0027	-67	c.244 others(86): Show c.2440+1537_2440+1603delTATATTACATATATAATATATCATAT ATTACATATATTATATATTACATATATAATATATCATATTA	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
CACNG5_chr17_66830117_66899751	66836319	TCCTGGGG others(60): Show TCCTGGGGAACACAAGATGGGGCTTCCCCTCCCAGCCACCTCACACCCAT TCCCCTCATTTCCACAAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0092 a0001c0003t0013g0092	1	372	0.0027	-67	c.-10 others(86): Show c.-104+1074_-104+1140delGGGAACACAAGATGGGGCTTCCCCTC CCAGCCACCTCACACCCATTCCCCTCATTTCCACAAACCTG	CACNG5	ENSG00000075429.9	transcript	ENST00000533854.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
CAMK1D_chr10_12344547_12840545	12691363	ATATATAT others(60): Show ATATATATATATATAAATATATATATATATATATATATATAAATATATAT ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02280.hp2 HG03492.hp2 others(2): Show HG01433.hp1 HG02280.hp2 HG03492.hp2 NA18971.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0035 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0035 a0001c0001t0097 a0001c0002t0023	a0001c0001t0002g0193 a0001c0001t0003g0195 a0001c0001t0035g0106 others(2): Show a0001c0001t0002g0193 a0001c0001t0003g0195 a0001c0001t0035g0106 a0001c0001t0097g0065 a0001c0002t0023g0102	5	214	0.0234	-67	c.299 others(86): Show c.299+24555_299+24621delATATATATATATAAATATATATATAT ATATATATATATAAATATATATATATATATATTTTTTTTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691365	ATATATAT others(60): Show ATATATATATATAAATATATATATATATATATATATATAAATATATATAT ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0091 a0001c0002t0004g0091	1	214	0.0047	-67	c.299 others(86): Show c.299+24557_299+24623delATATATATATAAATATATATATATAT ATATATATATAAATATATATATATATATATTTTTTTTTTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691367	ATATATAT others(60): Show ATATATATATAAATATATATATATATATATATATATAAATATATATATAT ATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0078 a0001c0001t0007g0078	1	214	0.0047	-67	c.299 others(86): Show c.299+24559_299+24625delATATATATAAATATATATATATATAT ATATATATAAATATATATATATATATATTTTTTTTTTTTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CANT1_chr17_78986716_79014764	79004873	GAGTTAAG others(60): Show GAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGCTGG GGGGGAGTTATGGAGCAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00597.hp1 others(43): Show HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG01168.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp2 HG02523.hp1 HG02738.hp1 HG03704.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp2 NA18944.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18975.hp1 NA18978.hp2 NA18991.hp1 NA18991.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp1 NA19055.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0022 a0001c0002t0024 a0001c0002t0028	a0001c0001t0001g0015 a0001c0001t0001g0085 a0001c0001t0001g0086 others(27): Show a0001c0001t0001g0015 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0004g0049 a0001c0001t0004g0205 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0002t0002g0098 a0001c0002t0003g0004 a0001c0002t0003g0011 a0001c0002t0003g0044 a0001c0002t0003g0046 a0001c0002t0003g0193 a0001c0002t0003g0203 a0001c0002t0003g0226 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0005g0087 a0001c0002t0005g0088 a0001c0002t0005g0089 a0001c0002t0005g0192 a0001c0002t0006g0195 a0001c0002t0022g0196 a0001c0002t0024g0204 a0001c0002t0028g0265	46	394	0.1168	-67	c.-14 others(86): Show c.-147+4724_-147+4790delTTGCTCCATAACTCCCCCCCAGCTCC CCTCTCCCTAACTCCCCTCCCTAACTCCCCTCTCCTTAACT	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPRIN2_chr12_30704553_30759951	30720729	TAATCATG others(60): Show TAATCATGCCTGTAATTCATAAGATAAACTGGTTCTGCTATTCTTTAAGA TACAAAAGAAATTAAGAC	T T	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19087.hp1 NA19074.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0127 a0001c0001t0001g0128	2	378	0.0053	-67	c.190 others(82): Show c.1905+15_1905+81delGTCTTAATTTCTTTTGTATCTTAAAGAATA GCAGAACCAGTTTATCTTATGAATTACAGGCATGATT	CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding	13/18			chr12	TogoVar
CARD11_chr7_2901142_3048867	2925745	CCCTTCCA others(60): Show CCCTTCCAATGTCGGCCTCTCTCCCCACAGCCTTGCACCTCCAAGGTCGG CCTCTCTCCCTGGCCTTG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19056.hp1 NA19088.hp1 HG02015.hp2 NA19056.hp1 NA19088.hp1	a0003 a0003	a0003c0022 a0003c0047 a0003c0022 a0003c0047	a0003c0022t0002 a0003c0047t0001 a0003c0022t0002 a0003c0047t0001	a0003c0022t0002g0148 a0003c0022t0002g0204 a0003c0047t0001g0147 a0003c0022t0002g0148 a0003c0022t0002g0204 a0003c0047t0001g0147	3	322	0.0093	-67	c.180 others(84): Show c.1807+927_1807+993delCAAGGCCAGGGAGAGAGGCCGACCTTGG AGGTGCAAGGCTGTGGGGAGAGAGGCCGACATTGGAAGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	14/24			chr7	TogoVar
CARD14_chr17_80165030_80214331	80197945	GAGAAGGG others(60): Show GAGAAGGGGCTGAGGTTACAGGAGGTTACAGGACGCCCCATCAGCAGTGG GGTGACCAAGATCTGTGA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18970.hp1 NA18960.hp2 NA18970.hp1	a0002 a0027 a0002 a0027	a0002c0002 a0027c0058 a0002c0002 a0027c0058	a0002c0002t0001 a0027c0058t0001 a0002c0002t0001 a0027c0058t0001	a0002c0002t0001g0110 a0027c0058t0001g0095 a0002c0002t0001g0110 a0027c0058t0001g0095	2	376	0.0053	-67	c.159 others(82): Show c.1595-86_1595-20delAGAAGGGGCTGAGGTTACAGGAGGTTACAG GACGCCCCATCAGCAGTGGGGTGACCAAGATCTGTGA	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
CBFA2T3_chr16_88869858_88982207	88950570	GGAGTGTT others(60): Show GGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCGTCCCCTGGACCGG CACCGCCACAGAGGGTCA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18990.hp1 NA18999.hp1 others(3): Show HG01943.hp2 NA18990.hp1 NA18999.hp1 NA19000.hp1 NA19087.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0058	6	284	0.0211	-67	c.151 others(86): Show c.151+26020_151+26086delTGACCCTCTGTGGCGGTGCCGGTCCA GGGGACGGGTGAACAGATCCGGAAGACAGGTGCCAACACTC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88951142	CTCCCCTG others(60): Show CTCCCCTGGATCGGCACCGGCACAGAGGGTCAGAGTGTTGGCACCTGTCT TCCGGATCTGTTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00642.hp2 others(45): Show HG00099.hp2 HG00140.hp2 HG00642.hp2 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG02109.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18952.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19057.hp2 NA19079.hp2 NA19085.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0016 a0001c0020 a0002c0004 a0009c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0025 a0001c0001t0031 a0001c0002t0001 a0001c0003t0001 a0001c0003t0011 a0001c0005t0028 a0001c0016t0005 a0001c0020t0029 a0002c0004t0001 a0009c0019t0001	a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0038 others(45): Show a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0095 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0002g0265 a0001c0001t0009g0135 a0001c0001t0025g0099 a0001c0001t0031g0232 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0003t0001g0085 a0001c0003t0011g0007 a0001c0005t0028g0249 a0001c0016t0005g0069 a0001c0020t0029g0111 a0002c0004t0001g0138 a0002c0004t0001g0149 a0009c0019t0001g0207	48	284	0.1690	-67	c.151 others(86): Show c.151+25448_151+25514delCGGGTGAACAGATCCGGAAGACAGGT GCCAACACTCTGACCCTCTGTGCCGGTGCCGATCCAGGGGA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88951152	TCGGCACC others(60): Show TCGGCACCGGCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTG TTCACCCGTCCCCTGGAC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	284	0.0035	-67	c.151 others(86): Show c.151+25438_151+25504delGTCCAGGGGACGGGTGAACAGATCCG GAAGACAGGTGCCAACACTCTGACCCTCTGTGCCGGTGCCG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC127_chr5_191868_223153	209082	CAGGACTC others(60): Show CAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACACA CATCATTCCACAACACAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG02922.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0174 a0001c0001t0175 a0001c0001t0174 a0001c0001t0175	a0001c0001t0174g0115 a0001c0001t0175g0116 a0001c0001t0174g0115 a0001c0001t0175g0116	2	406	0.0049	-67	c.122 others(84): Show c.122-3191_122-3125delATGTGTTGTGGAATGATGTGTGTGGCCA GGCTGCGAAGGGTTGTTTCTGTGTTTGTGGGGGAGTCCT	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCDC183_chr9_136791338_136812741	136803232	AGCCCTCT others(60): Show AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC TGGGGCCCCCCAGGGCGG	A A	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	398	0.0025	-67	c.666 others(82): Show c.666+449_666+515delCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDC73_chr1_193117031_193259815	193162007	TATTATAT others(60): Show TATTATATTGTATATAATATATATCATATTATATTGTATATAATATATAT CATATTATATTGTATATA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01106.hp2 others(9): Show HG00621.hp2 HG00673.hp2 HG01106.hp2 HG01358.hp1 HG02056.hp1 HG02080.hp1 HG02135.hp1 HG03209.hp2 NA18970.hp2 NA18986.hp2 NA19004.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0030 a0001c0001t0001g0060 a0001c0001t0001g0062 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0002g0140	12	274	0.0438	-67	c.972 others(84): Show c.972+9566_972+9632delTATATTGTATATAATATATATCATATTA TATTGTATATAATATATATCATATTATATTGTATATAAT	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH4_chr20_61247261_61945617	61550257	CTCCCTGG others(60): Show CTCCCTGGCCTCCCTAGCCTACCTCCCTGGCCTCCCTGCCCCAACCTCAC TGGCCTCCCTAGCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp1 HG01255.hp1 others(6): Show HG01123.hp1 HG01243.hp1 HG01255.hp1 HG02055.hp1 HG02055.hp2 HG02723.hp1 HG02965.hp1 HG03139.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0004	a0001c0001t0002 a0001c0001t0031 a0001c0003t0017 others(6): Show a0001c0001t0002 a0001c0001t0031 a0001c0003t0017 a0001c0003t0036 a0001c0006t0006 a0001c0006t0021 a0001c0006t0029 a0002c0002t0013 a0002c0004t0003	a0001c0001t0002g0088 a0001c0001t0031g0089 a0001c0003t0017g0067 others(6): Show a0001c0001t0002g0088 a0001c0001t0031g0089 a0001c0003t0017g0067 a0001c0003t0036g0043 a0001c0006t0006g0029 a0001c0006t0021g0004 a0001c0006t0029g0035 a0002c0002t0013g0017 a0002c0004t0003g0011	9	106	0.0849	-67	c.170 others(88): Show c.170-193286_170-193220delACCTCCCTGGCCTCCCTGCCCCAA CCTCACTGGCCTCCCTAGCCTGCTTCCCTGGCCTCCCTAGCCT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CEP104_chr1_3807086_3862211	3825012	GGCAGTGG others(60): Show GGCAGTGGCACTGTGGGAAGGGGGGCAGTGGCACTGTGGGAAGGGGGCAG TGGCACTGTGGGAAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01243.hp1 others(12): Show HG00642.hp2 HG00741.hp2 HG01243.hp1 HG02280.hp2 HG02615.hp2 HG02622.hp1 HG02818.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0026 others(6): Show a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0308	15	382	0.0393	-67	c.236 others(84): Show c.2364+679_2364+745delTCCCTTCCCACAGTGCCACTGCCCCCTT CCCACAGTGCCACTGCCCCCCTTCCCACAGTGCCACTGC	CEP104	ENSG00000116198.14	transcript	ENST00000378230.8	protein_coding	18/21			chr1	TogoVar
CEP72_chr5_607340_658553	654822	CCCGTCTC others(60): Show CCCGTCTCTCACTTCTTCCTCCCTGTCCCCATCTGGGACTCTAGTTAGCT TTCTGTTAGACTGTGATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01175.hp1 others(16): Show HG00735.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp1 HG01433.hp1 HG01981.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG03491.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp2 NA18942.hp1 NA18982.hp1 NA20752.hp2 NA20905.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0001 a0002c0002t0001 a0005c0007t0001	a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 others(16): Show a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0005c0007t0001g0076	19	91	0.2088	-67	c.16 others(78): Show c.1670_*1736delCCGTCTCTCACTTCTTCCTCCCTGTCCCCATCTG GGACTCTAGTTAGCTTTCTGTTAGACTGTGATA	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding		1270		chr5	TogoVar
CERS3_chr15_100395395_100533950	100452094	TTGGATTT others(60): Show TTGGATTTAAACTGCACTTTATGCCAAATGGACCTAACAGACTTTTACAG AACATTTCATCCAATGGC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03225.hp2 HG02896.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0240 a0001c0001t0002g0204 a0001c0001t0002g0240	2	362	0.0055	-67	c.999 others(84): Show c.999+3732_999+3798delGCCATTGGATGAAATGTTCTGTAAAAGT CTGTTAGGTCCATTTGGCATAAAGTGCAGTTTAAATCCA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	11/11			chr15	TogoVar
CFAP46_chr10_132803392_132947570	132887113	ACCTCTCT others(60): Show ACCTCTCTCTCTCCTCTCCTCTGTCCTCTCTCACTTCTCTCTCTCCTCTC TCTTCTTTCCTCTCCCCT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0101 a0008c0009t0002g0101	1	246	0.0041	-67	c.330 others(86): Show c.3305-1221_3305-1155delAGGGGAGAGGAAAGAAGAGAGAGGAG AGAGAGAAGTGAGAGAGGACAGAGGAGAGGAGAGAGAGAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP74_chr1_1916957_2008786	1928136	CGGGAAGG others(60): Show CGGGAAGGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCT TGGGAGGAAGCCAGGCCG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0042 a0012c0014t0001g0042	1	278	0.0036	-67	c.338 others(84): Show c.3388-457_3388-391delCGGCCTGGCTTCCTCCCAAGGGTTTGCC CTTCCCGGCCTGGCTTCCTCCCAAGGGTTTGCCCTTCCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	27/38			chr1	TogoVar
CHST8_chr19_33616953_33778506	33757419	AAAGAAAG others(60): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	254	0.0039	-67	c.131 others(86): Show c.131-13991_131-13925delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CMC4_chrX_155056622_155076136	155057008	TGGTTGAG others(60): Show TGGTTGAGGTCAGTATTGCAGGTTGGCCTCATCCTGCTAGTATGAGAACG GCTGTGAGTTCTGCCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA18945.hp1 NA18984.hp1 HG01433.hp1 NA18945.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	292	0.0103	-67	c.47 others(78): Show c.4768_*4834delGTGGGCAGAACTCACAGCCGTTCTCATACTAGCA GGATGAGGCCAACCTGCAATACTGACCTCAACC	CMC4	ENSG00000182712.16	transcript	ENST00000369484.8	protein_coding		4613		chrX	TogoVar
COL18A1_chr21_45400165_45518720	45508449	GAGTGGAT others(60): Show GAGTGGATGGGTGGATGGACAGGTGGGTGAGTGGATGGGTGGGTGGATGG ATGGTGGGTAAGTGGGTT	G G	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0005 a0005	a0005c0058 a0005c0058	a0005c0058t0001 a0005c0058t0001	a0005c0058t0001g0165 a0005c0058t0001g0165	1	292	0.0034	-67	c.324 others(84): Show c.3249+870_3250-827delATGGACAGGTGGGTGAGTGGATGGGTGG GTGGATGGATGGTGGGTAAGTGGGTTAGTGGATGGGTGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	38/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL22A1_chr8_138583235_138919041	138594243	TGGACATA others(60): Show TGGACATAGGACAGGATGGCTACTCACTGACAACTCAGAACCAGGGGGCC GATAATAGCTGCAGAAAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01981.hp1 HG03688.hp1 others(1): Show HG01070.hp1 HG01981.hp1 HG03688.hp1 NA20752.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0009 a0002c0059 a0004c0019 others(1): Show a0002c0009 a0002c0059 a0004c0019 a0005c0051	a0002c0009t0001 a0002c0059t0001 a0004c0019t0001 others(1): Show a0002c0009t0001 a0002c0059t0001 a0004c0019t0001 a0005c0051t0001	a0002c0009t0001g0072 a0002c0059t0001g0051 a0004c0019t0001g0130 others(1): Show a0002c0009t0001g0072 a0002c0059t0001g0051 a0004c0019t0001g0130 a0005c0051t0001g0052	4	158	0.0253	-67	c.443 others(83): Show c.4433-111_4433-45delGTTTCTGCAGCTATTATCGGCCCCCTGGT TCTGAGTTGTCAGTGAGTAGCCATCCTGTCCTATGTCC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	62/64			chr8	TogoVar
COL26A1_chr7_101357875_101564024	101489711	TTCATTCT others(60): Show TTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTCTT TCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp1 HG02615.hp2 others(2): Show HG00741.hp1 HG01070.hp1 HG02615.hp2 HG02965.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0007	a0001c0001t0002 a0001c0002t0006 a0002c0003t0001 others(2): Show a0001c0001t0002 a0001c0002t0006 a0002c0003t0001 a0002c0004t0001 a0002c0007t0004	a0001c0001t0002g0080 a0001c0002t0006g0034 a0002c0003t0001g0141 others(2): Show a0001c0001t0002g0080 a0001c0002t0006g0034 a0002c0003t0001g0141 a0002c0004t0001g0145 a0002c0007t0004g0007	5	174	0.0287	-67	c.385 others(86): Show c.385+41926_385+41992delCATTCTTTCTTTCTCTCTCTCTTTCT CTCTTTCTTTCTTGTCTCTCTTTCTTTCTTTCTTTCTTTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A3_chr2_227159624_227319792	227193820	AAAGGAAG others(60): Show AAAGGAAGGAAGGAAGGGGAGAGAAGGAGAGGAGAAGGAGAAGGGAAATA AGGAGAGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01943.hp2 HG01978.hp2 others(3): Show HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02698.hp2 HG02717.hp2 HG03710.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0004c0003 a0001c0001 a0003c0002 a0004c0003	a0001c0001t0001 a0003c0002t0003 a0003c0002t0006 others(1): Show a0001c0001t0001 a0003c0002t0003 a0003c0002t0006 a0004c0003t0019	a0001c0001t0001g0098 a0001c0001t0001g0138 a0001c0001t0001g0161 others(3): Show a0001c0001t0001g0098 a0001c0001t0001g0138 a0001c0001t0001g0161 a0003c0002t0003g0159 a0003c0002t0006g0045 a0004c0003t0019g0105	6	344	0.0174	-67	c.87+ others(84): Show c.87+29091_87+29157delGGAGAGAAGGAGAGGAGAAGGAGAAGGG AAATAAGGAGAGAGGGAGGGAGGAAGGAAGGAAGGAAGG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A3_chr19_9954561_10015504	9970038	TCTGTGGG others(60): Show TCTGTGGGGTGAATGAGGTCTGGGTGAGTGGGGGCTGTGGGTGAGTGGGG GCTGTGGCTGAGTGGAGG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG03486.hp2 others(1): Show HG02280.hp2 HG02572.hp2 HG03486.hp2 NA21309.hp2	a0039 a0050 a0063 others(1): Show a0039 a0050 a0063 a0068	a0039c0067 a0050c0115 a0063c0134 others(1): Show a0039c0067 a0050c0115 a0063c0134 a0068c0101	a0039c0067t0002 a0050c0115t0002 a0063c0134t0001 others(1): Show a0039c0067t0002 a0050c0115t0002 a0063c0134t0001 a0068c0101t0004	a0039c0067t0002g0335 a0050c0115t0002g0390 a0063c0134t0001g0304 others(1): Show a0039c0067t0002g0335 a0050c0115t0002g0390 a0063c0134t0001g0304 a0068c0101t0004g0039	4	412	0.0097	-67	c.393 others(84): Show c.3937-183_3937-117delCCTCCACTCAGCCACAGCCCCCACTCAC CCACAGCCCCCACTCACCCAGACCTCATTCACCCCACAG	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COMT_chr22_19936772_19974975	19959771	TGAGCCTT others(60): Show TGAGCCTTTGGCCTTGAGCACTTCCCCATCCCCCATGGCTCTTGGCCGTT GGGGCCCAGTTGGCCGCA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG00735.hp1 others(13): Show HG00639.hp2 HG00733.hp2 HG00735.hp1 HG01257.hp1 HG01258.hp2 HG01943.hp2 HG02129.hp1 HG02300.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp2 HG02886.hp2 HG02895.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0009 others(1): Show a0001c0002 a0001c0003 a0001c0009 a0002c0001	a0001c0002t0003 a0001c0003t0002 a0001c0003t0004 others(3): Show a0001c0002t0003 a0001c0003t0002 a0001c0003t0004 a0001c0009t0006 a0002c0001t0001 a0002c0001t0002	a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0058 others(11): Show a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0003t0002g0359 a0001c0003t0004g0319 a0001c0009t0006g0069 a0001c0009t0006g0213 a0002c0001t0001g0006 a0002c0001t0001g0011 a0002c0001t0001g0134 a0002c0001t0002g0098	16	426	0.0376	-67	c.-91 others(84): Show c.-91-1400_-91-1334delTCCCCCATGGCTCTTGGCCGTTGGGGCC CAGTTGGCCGCAGAGCCTTTGGCCTTGAGCACTTCCCCA	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
COMT_chr22_19936772_19974975	19959799	TCCCCCAT others(60): Show TCCCCCATGGCTCTTGGCCGTTGGGGCCCAGTTGGCCGCAGAGCCTTTGG CCTTGAGCACTTCCCCAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(192): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02922.hp2 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0001c0005 others(7): Show a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0002c0001 a0002c0007 a0002c0011 a0002c0012 a0003c0006 a0004c0010	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(22): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0015 a0001c0003t0002 a0001c0003t0005 a0001c0005t0004 a0001c0009t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0006 a0002c0001t0010 a0002c0001t0013 a0002c0001t0019 a0002c0001t0026 a0002c0007t0005 a0002c0011t0001 a0002c0012t0001 a0003c0006t0002 a0004c0010t0001	a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0023 others(180): Show a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0070 a0001c0002t0001g0084 a0001c0002t0001g0096 a0001c0002t0001g0103 a0001c0002t0001g0119 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0145 a0001c0002t0001g0159 a0001c0002t0001g0169 a0001c0002t0001g0189 a0001c0002t0001g0230 a0001c0002t0001g0258 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0301 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0323 a0001c0002t0001g0331 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0344 a0001c0002t0001g0345 a0001c0002t0001g0346 a0001c0002t0001g0348 a0001c0002t0001g0349 a0001c0002t0001g0350 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0002t0001g0355 a0001c0002t0001g0356 a0001c0002t0001g0357 a0001c0002t0001g0358 a0001c0002t0001g0360 a0001c0002t0001g0361 a0001c0002t0001g0362 a0001c0002t0001g0363 a0001c0002t0001g0364 a0001c0002t0001g0365 a0001c0002t0001g0367 a0001c0002t0001g0369 a0001c0002t0001g0372 a0001c0002t0001g0378 a0001c0002t0001g0380 a0001c0002t0001g0384 a0001c0002t0002g0090 a0001c0002t0002g0181 a0001c0002t0002g0326 a0001c0002t0002g0327 a0001c0002t0002g0329 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0373 a0001c0002t0002g0375 a0001c0002t0002g0376 a0001c0002t0002g0381 a0001c0002t0002g0383 a0001c0002t0002g0389 a0001c0002t0003g0048 a0001c0002t0003g0053 a0001c0002t0003g0067 a0001c0002t0003g0140 a0001c0002t0003g0257 a0001c0002t0003g0302 a0001c0002t0003g0304 a0001c0002t0003g0308 a0001c0002t0003g0311 a0001c0002t0003g0312 a0001c0002t0003g0314 a0001c0002t0003g0315 a0001c0002t0003g0316 a0001c0002t0003g0317 a0001c0002t0003g0318 a0001c0002t0003g0322 a0001c0002t0005g0347 a0001c0002t0005g0382 a0001c0002t0006g0303 a0001c0002t0006g0305 a0001c0002t0010g0325 a0001c0002t0015g0366 a0001c0003t0002g0328 a0001c0003t0002g0368 a0001c0003t0002g0374 a0001c0003t0005g0089 a0001c0005t0004g0111 a0001c0009t0002g0370 a0002c0001t0001g0001 a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0017 a0002c0001t0001g0026 a0002c0001t0001g0039 a0002c0001t0001g0041 a0002c0001t0001g0046 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0052 a0002c0001t0001g0054 a0002c0001t0001g0061 a0002c0001t0001g0066 a0002c0001t0001g0068 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0080 a0002c0001t0001g0081 a0002c0001t0001g0082 a0002c0001t0001g0083 a0002c0001t0001g0085 a0002c0001t0001g0091 a0002c0001t0001g0093 a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0097 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0104 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0114 a0002c0001t0001g0115 a0002c0001t0001g0118 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0125 a0002c0001t0001g0131 a0002c0001t0001g0132 a0002c0001t0001g0136 a0002c0001t0001g0137 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0152 a0002c0001t0001g0216 a0002c0001t0001g0249 a0002c0001t0001g0273 a0002c0001t0001g0282 a0002c0001t0001g0287 a0002c0001t0001g0300 a0002c0001t0001g0324 a0002c0001t0001g0330 a0002c0001t0001g0352 a0002c0001t0001g0371 a0002c0001t0001g0377 a0002c0001t0002g0141 a0002c0001t0002g0218 a0002c0001t0003g0008 a0002c0001t0003g0309 a0002c0001t0003g0310 a0002c0001t0004g0040 a0002c0001t0004g0283 a0002c0001t0006g0007 a0002c0001t0006g0130 a0002c0001t0010g0133 a0002c0001t0013g0223 a0002c0001t0019g0116 a0002c0001t0026g0144 a0002c0007t0005g0124 a0002c0011t0001g0055 a0002c0011t0001g0313 a0002c0012t0001g0127 a0003c0006t0002g0339 a0003c0006t0002g0340 a0004c0010t0001g0071 a0004c0010t0001g0077 a0004c0010t0001g0078	195	426	0.4578	-67	c.-91 others(84): Show c.-91-1381_-91-1315delGTTGGGGCCCAGTTGGCCGCAGAGCCTT TGGCCTTGAGCACTTCCCCAGCCCCCATGGCTCTTGGCC	COMT	ENSG00000093010.15	transcript	ENST00000361682.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CPLX1_chr4_779957_831129	826375	CGGGGCGG others(60): Show CGGGGCGGGGGCGGGGGGTGGACCCGGGGCGGGGGCGGGGGTGGACCCGG GGGCGGGGGCGGGGGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0291 a0001c0001t0006g0291	1	416	0.0024	-67	c.-47 others(76): Show c.-476_-410delCGCCCCCCGCCCCCGCCCCCGGGTCCACCCCCGCCC CCGCCCCGGGTCCACCCCCCGCCCCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		247		chr4	TogoVar

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