Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

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)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
CFAP47_chrX_35914734_36390317	35923891	ATGTGTAT others(33): Show ATGTGTATATATGTACATGTGTATATATGTACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0011 a0011	a0011c0030 a0011c0030	a0011c0030t0001 a0011c0030t0001	a0011c0030t0001g0185 a0011c0030t0001g0185	1	216	0.0046	-40	c.250 others(57): Show c.250-2122_250-2083delGTATATATGTACATGTGTATATATGTAC ATATATATGTGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35923917	ATGTACAT others(33): Show ATGTACATATATATGTGTATATATGTACATGTGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00621.hp1 others(40): Show HG00408.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG01168.hp1 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02071.hp1 HG02257.hp1 HG02273.hp2 HG02630.hp2 HG02723.hp2 HG02818.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03831.hp1 NA18943.hp1 NA18952.hp2 NA18954.hp2 NA18962.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18992.hp1 NA18994.hp1 NA19002.hp1 NA19030.hp1 NA19057.hp1 NA19074.hp2 NA19082.hp1 NA19085.hp1 NA20752.hp1	a0001 a0002 a0008 others(13): Show a0001 a0002 a0008 a0009 a0013 a0014 a0015 a0018 a0019 a0022 a0025 a0026 a0027 a0028 a0041 a0048	a0001c0071 a0002c0002 a0002c0013 others(17): Show a0001c0071 a0002c0002 a0002c0013 a0002c0067 a0008c0009 a0009c0012 a0009c0026 a0009c0065 a0013c0011 a0014c0070 a0015c0073 a0018c0022 a0019c0023 a0022c0078 a0025c0066 a0026c0069 a0027c0064 a0028c0068 a0041c0075 a0048c0072	a0001c0071t0001 a0002c0002t0001 a0002c0013t0001 others(17): Show a0001c0071t0001 a0002c0002t0001 a0002c0013t0001 a0002c0067t0001 a0008c0009t0001 a0009c0012t0001 a0009c0026t0001 a0009c0065t0001 a0013c0011t0001 a0014c0070t0001 a0015c0073t0004 a0018c0022t0001 a0019c0023t0001 a0022c0078t0003 a0025c0066t0001 a0026c0069t0001 a0027c0064t0001 a0028c0068t0001 a0041c0075t0001 a0048c0072t0001	a0001c0071t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 others(40): Show a0001c0071t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0002t0001g0171 a0002c0013t0001g0126 a0002c0013t0001g0127 a0002c0067t0001g0161 a0008c0009t0001g0144 a0008c0009t0001g0148 a0008c0009t0001g0159 a0008c0009t0001g0164 a0008c0009t0001g0165 a0009c0012t0001g0143 a0009c0012t0001g0145 a0009c0012t0001g0156 a0009c0026t0001g0128 a0009c0065t0001g0173 a0013c0011t0001g0167 a0013c0011t0001g0169 a0013c0011t0001g0172 a0014c0070t0001g0138 a0015c0073t0004g0137 a0018c0022t0001g0002 a0018c0022t0001g0003 a0019c0023t0001g0146 a0019c0023t0001g0174 a0022c0078t0003g0134 a0025c0066t0001g0170 a0026c0069t0001g0147 a0027c0064t0001g0168 a0028c0068t0001g0142 a0041c0075t0001g0135 a0048c0072t0001g0136	43	216	0.1991	-40	c.250 others(57): Show c.250-2098_250-2059delGTACATATATATGTGTATATATGTACAT GTGTATATATGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP54_chr12_96484577_96880555	96512299	TTTTATAT others(33): Show TTTTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp1 others(53): Show HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp1 HG01978.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02258.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18964.hp1 NA18971.hp1 NA18990.hp1 NA18998.hp2 NA19004.hp1 NA19060.hp1 NA19066.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(11): Show a0002 a0003 a0004 a0007 a0011 a0013 a0016 a0017 a0018 a0026 a0031 a0032 a0034 a0061	a0002c0032 a0003c0002 a0003c0016 others(18): Show a0002c0032 a0003c0002 a0003c0016 a0003c0033 a0003c0072 a0003c0073 a0004c0005 a0007c0019 a0007c0075 a0011c0017 a0011c0069 a0013c0018 a0016c0022 a0017c0031 a0018c0067 a0018c0068 a0026c0025 a0031c0074 a0032c0070 a0034c0065 a0061c0096	a0002c0032t0001 a0003c0002t0001 a0003c0002t0004 others(19): Show a0002c0032t0001 a0003c0002t0001 a0003c0002t0004 a0003c0016t0001 a0003c0033t0001 a0003c0072t0001 a0003c0073t0001 a0004c0005t0001 a0007c0019t0001 a0007c0075t0001 a0011c0017t0001 a0011c0069t0001 a0013c0018t0001 a0016c0022t0001 a0017c0031t0001 a0018c0067t0001 a0018c0068t0001 a0026c0025t0001 a0031c0074t0001 a0032c0070t0001 a0034c0065t0001 a0061c0096t0001	a0002c0032t0001g0222 a0003c0002t0001g0210 a0003c0002t0001g0211 others(53): Show a0002c0032t0001g0222 a0003c0002t0001g0210 a0003c0002t0001g0211 a0003c0002t0001g0215 a0003c0002t0001g0216 a0003c0002t0001g0219 a0003c0002t0001g0220 a0003c0002t0001g0221 a0003c0002t0001g0224 a0003c0002t0001g0225 a0003c0002t0001g0226 a0003c0002t0001g0227 a0003c0002t0001g0228 a0003c0002t0001g0230 a0003c0002t0001g0232 a0003c0002t0001g0233 a0003c0002t0001g0236 a0003c0002t0001g0237 a0003c0002t0001g0238 a0003c0002t0001g0239 a0003c0002t0001g0240 a0003c0002t0001g0241 a0003c0002t0001g0242 a0003c0002t0001g0249 a0003c0002t0001g0263 a0003c0002t0001g0264 a0003c0002t0001g0267 a0003c0002t0004g0265 a0003c0016t0001g0246 a0003c0016t0001g0247 a0003c0016t0001g0248 a0003c0033t0001g0218 a0003c0072t0001g0245 a0003c0073t0001g0214 a0004c0005t0001g0231 a0007c0019t0001g0229 a0007c0019t0001g0268 a0007c0075t0001g0015 a0011c0017t0001g0259 a0011c0017t0001g0260 a0011c0017t0001g0262 a0011c0069t0001g0261 a0013c0018t0001g0253 a0013c0018t0001g0254 a0013c0018t0001g0257 a0016c0022t0001g0217 a0016c0022t0001g0223 a0017c0031t0001g0266 a0018c0067t0001g0235 a0018c0068t0001g0234 a0026c0025t0001g0002 a0026c0025t0001g0003 a0031c0074t0001g0243 a0032c0070t0001g0244 a0034c0065t0001g0212 a0061c0096t0001g0252	56	268	0.2090	-40	c.740 others(55): Show c.740-685_740-646delTTATATATATATATATATATATATATATAT ATATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	4/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96553488	ATATATAT others(33): Show ATATATATATATAGTAATATATGTATAGTAATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18995.hp2 HG03209.hp1 NA18995.hp2	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0001 a0002c0007t0001 a0002c0003t0001 a0002c0007t0001	a0002c0003t0001g0168 a0002c0007t0001g0154 a0002c0003t0001g0168 a0002c0007t0001g0154	2	268	0.0075	-40	c.215 others(57): Show c.2155-681_2155-642delGTAATATATGTATAGTAATATATATAGT TATATATATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96806159	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0091 a0002c0091	a0002c0091t0001 a0002c0091t0001	a0002c0091t0001g0138 a0002c0091t0001g0138	1	268	0.0037	-40	c.885 others(59): Show c.8851-5561_8851-5522delTATATATATATATATATATATATATA TATATATATATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	63/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP58_chr10_104348833_104460102	104396369	TGAGAGAG others(33): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	308	0.0033	-40	c.167 others(59): Show c.1674+2925_1675-2921delGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP58_chr10_104348833_104460102	104396400	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0233	1	308	0.0033	-40	c.167 others(59): Show c.1674+2939_1675-2907delGAGAGAGAGAGAGAGAGAGAGAGAGA AAGAGAGAGAGAGA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP61_chr20_20047532_20365698	20355395	ATGGTCAC others(33): Show ATGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00639.hp2 others(92): Show HG00323.hp1 HG00423.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18951.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18981.hp1 NA19003.hp1 NA19005.hp2 NA19064.hp2 NA19081.hp2 NA20129.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0016 a0017 a0019 a0021 a0022 a0024 a0025	a0001c0001 a0001c0003 a0001c0006 others(24): Show a0001c0001 a0001c0003 a0001c0006 a0001c0015 a0001c0024 a0001c0026 a0001c0039 a0002c0002 a0002c0004 a0002c0009 a0002c0035 a0003c0005 a0003c0046 a0004c0008 a0005c0025 a0006c0011 a0007c0010 a0009c0014 a0011c0018 a0012c0019 a0016c0033 a0017c0037 a0019c0038 a0021c0041 a0022c0042 a0024c0029 a0025c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(37): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0006t0001 a0001c0006t0003 a0001c0015t0002 a0001c0024t0008 a0001c0026t0001 a0001c0039t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0004t0001 a0002c0004t0004 a0002c0009t0001 a0002c0035t0001 a0003c0005t0001 a0003c0046t0001 a0004c0008t0001 a0005c0025t0005 a0006c0011t0003 a0007c0010t0003 a0009c0014t0007 a0011c0018t0003 a0012c0019t0003 a0016c0033t0001 a0017c0037t0005 a0019c0038t0001 a0021c0041t0001 a0022c0042t0003 a0024c0029t0003 a0025c0028t0001	a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0078 others(92): Show a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0228 a0001c0001t0001g0236 a0001c0001t0003g0092 a0001c0001t0003g0119 a0001c0001t0003g0124 a0001c0001t0003g0139 a0001c0001t0004g0003 a0001c0001t0004g0014 a0001c0001t0005g0126 a0001c0001t0005g0129 a0001c0001t0005g0171 a0001c0001t0007g0008 a0001c0003t0001g0031 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0164 a0001c0003t0001g0196 a0001c0003t0001g0199 a0001c0003t0001g0202 a0001c0003t0001g0211 a0001c0003t0001g0214 a0001c0003t0001g0221 a0001c0003t0003g0142 a0001c0003t0004g0004 a0001c0003t0004g0015 a0001c0006t0001g0220 a0001c0006t0003g0021 a0001c0015t0002g0233 a0001c0024t0008g0176 a0001c0026t0001g0141 a0001c0039t0003g0125 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0051 a0002c0002t0001g0064 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0136 a0002c0002t0001g0150 a0002c0002t0001g0174 a0002c0002t0001g0179 a0002c0002t0001g0189 a0002c0002t0001g0230 a0002c0002t0002g0027 a0002c0002t0002g0134 a0002c0002t0003g0083 a0002c0002t0003g0102 a0002c0002t0004g0001 a0002c0002t0005g0114 a0002c0002t0005g0137 a0002c0002t0007g0018 a0002c0004t0001g0025 a0002c0004t0001g0205 a0002c0004t0001g0215 a0002c0004t0001g0219 a0002c0004t0004g0017 a0002c0009t0001g0105 a0002c0035t0001g0204 a0003c0005t0001g0080 a0003c0005t0001g0217 a0003c0046t0001g0059 a0004c0008t0001g0055 a0004c0008t0001g0135 a0005c0025t0005g0140 a0006c0011t0003g0098 a0007c0010t0003g0133 a0009c0014t0007g0006 a0011c0018t0003g0122 a0012c0019t0003g0120 a0016c0033t0001g0026 a0017c0037t0005g0138 a0019c0038t0001g0113 a0021c0041t0001g0210 a0022c0042t0003g0128 a0024c0029t0003g0132 a0025c0028t0001g0100	95	236	0.4025	-40	c.351 others(59): Show c.3514-4742_3514-4703delAGGGGAGGTGGTCACACTGTGAGGGG AGGTGGTCACACTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356461	GTGGTCAC others(33): Show GTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02922.hp1 others(4): Show HG02572.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG03195.hp1 HG03471.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0008	a0001c0001t0001 a0001c0003t0004 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0003t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0004c0008t0001	a0001c0001t0001g0078 a0001c0003t0004g0004 a0002c0002t0001g0136 others(4): Show a0001c0001t0001g0078 a0001c0003t0004g0004 a0002c0002t0001g0136 a0002c0002t0003g0083 a0002c0002t0007g0018 a0004c0008t0001g0055 a0004c0008t0001g0135	7	236	0.0297	-40	c.351 others(59): Show c.3514-3709_3514-3670delATGGTCACACTGAGGGGAGGTGGTCA CAGTGTGAGGGGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP69_chr7_90240174_90316063	90290743	GTCTTTTC others(33): Show GTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01123.hp1 others(3): Show HG00140.hp2 HG00735.hp2 HG01123.hp1 HG01891.hp2 HG02895.hp2 HG03225.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0019 a0002c0001 a0007c0009 a0001c0019 a0002c0001 a0007c0009	a0001c0019t0002 a0002c0001t0001 a0007c0009t0002 a0001c0019t0002 a0002c0001t0001 a0007c0009t0002	a0001c0019t0002g0165 a0002c0001t0001g0041 a0002c0001t0001g0042 others(3): Show a0001c0019t0002g0165 a0002c0001t0001g0041 a0002c0001t0001g0042 a0007c0009t0002g0283 a0007c0009t0002g0284 a0007c0009t0002g0285	6	338	0.0178	-40	c.177 others(59): Show c.1775+2433_1775+2472delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTT	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFAP70_chr10_73248762_73363864	73284737	CACATATA others(33): Show CACATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	220	0.0046	-40	c.245 others(59): Show c.2450-6440_2450-6401delATATATATATATATATATATATATAT ATATATATATATGT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27			chr10	TogoVar
CFAP70_chr10_73248762_73363864	73284739	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG02145.hp2 others(8): Show HG00735.hp1 HG01884.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0002 a0003c0003t0002g0003 a0003c0003t0002g0004 others(8): Show a0003c0003t0002g0002 a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0002g0007 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014	11	220	0.0500	-40	c.245 others(59): Show c.2450-6442_2450-6403delATATATATATATATATATATATATAT ATATATATATATAT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27			chr10	TogoVar
CFAP77_chr9_132405211_132578319	132486026	ATATATAT others(33): Show ATATATATATATATATGTATGTATATGTATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01169.hp2 HG01192.hp2 others(12): Show HG00408.hp1 HG01169.hp2 HG01192.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02040.hp2 HG02155.hp1 HG02293.hp2 HG03704.hp1 NA18970.hp1 NA19007.hp1 NA19057.hp2 NA19078.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0007 a0001c0002 a0002c0003 a0002c0007	a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0007t0001	a0001c0002t0001g0287 a0001c0002t0002g0306 a0002c0003t0001g0008 others(12): Show a0001c0002t0001g0287 a0001c0002t0002g0306 a0002c0003t0001g0008 a0002c0003t0001g0066 a0002c0003t0001g0070 a0002c0003t0001g0083 a0002c0003t0001g0104 a0002c0003t0001g0207 a0002c0003t0001g0219 a0002c0003t0001g0230 a0002c0003t0001g0235 a0002c0003t0001g0316 a0002c0003t0002g0034 a0002c0003t0002g0300 a0002c0007t0001g0165	15	322	0.0466	-40	c.196 others(59): Show c.196-12653_196-12614delGTATGTATATGTATGTGTGTGTGTGT ATATATATATATAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97D2_chr13_114174257_114228085	114177377	CTGTGGGT others(33): Show CTGTGGGTGGACAGCTGTGGGTGACAGCCGTGGGTGGACAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01361.hp2 HG01993.hp1 others(12): Show HG00642.hp2 HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02273.hp1 HG02273.hp2 HG03834.hp1 NA18954.hp1 NA18992.hp2 NA18999.hp2 NA19063.hp1 NA19074.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0033 a0001c0001t0006g0340 others(9): Show a0001c0001t0006g0010 a0001c0001t0006g0033 a0001c0001t0006g0340 a0001c0001t0006g0341 a0001c0001t0006g0342 a0001c0001t0006g0343 a0001c0001t0006g0344 a0001c0001t0006g0345 a0001c0001t0006g0346 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0006g0349	15	400	0.0375	-40	c.-19 others(51): Show c.-1953_-1914delTGTGGGTGGACAGCTGTGGGTGACAGCCGTGGGT GGACAG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding		1879		chr13	TogoVar
CFH_chr1_196647043_196752504	196692746	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	308	0.0033	-40	c.133 others(59): Show c.1336+2545_1336+2584delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHAT_chr10_49609037_49672942	49647740	TTTCCTTC others(33): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0284 a0001c0001t0023g0284	1	418	0.0024	-40	c.128 others(57): Show c.1282-736_1282-697delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTT	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHD5_chr1_6096787_6185321	6155072	CCCCAGCT others(33): Show CCCCAGCTTCCTGTCCACACCCACAGCCCACCCCCAAAACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(106): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02615.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03017.hp1 HG03195.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18992.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19090.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0004 a0001c0005 others(16): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0015 a0001c0016 a0001c0019 a0001c0021 a0001c0023 a0001c0035 a0001c0036 a0001c0049 a0002c0002 a0002c0022 a0002c0033 a0004c0037 a0005c0034	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(50): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0004t0003 a0001c0004t0004 a0001c0004t0018 a0001c0004t0024 a0001c0004t0027 a0001c0004t0030 a0001c0004t0031 a0001c0004t0066 a0001c0004t0072 a0001c0004t0075 a0001c0004t0083 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0005 a0001c0005t0006 a0001c0005t0030 a0001c0005t0055 a0001c0005t0057 a0001c0007t0003 a0001c0007t0005 a0001c0007t0044 a0001c0007t0058 a0001c0007t0059 a0001c0008t0006 a0001c0009t0073 a0001c0015t0002 a0001c0015t0006 a0001c0015t0008 a0001c0016t0016 a0001c0019t0085 a0001c0021t0005 a0001c0023t0002 a0001c0023t0074 a0001c0035t0002 a0001c0036t0006 a0001c0049t0049 a0002c0002t0001 a0002c0002t0009 a0002c0002t0013 a0002c0002t0017 a0002c0002t0023 a0002c0002t0026 a0002c0002t0028 a0002c0002t0062 a0002c0022t0001 a0002c0022t0009 a0002c0033t0009 a0004c0037t0065 a0005c0034t0006	a0001c0001t0003g0097 a0001c0001t0007g0275 a0001c0001t0008g0095 others(104): Show a0001c0001t0003g0097 a0001c0001t0007g0275 a0001c0001t0008g0095 a0001c0004t0003g0267 a0001c0004t0004g0032 a0001c0004t0004g0081 a0001c0004t0004g0094 a0001c0004t0004g0177 a0001c0004t0004g0198 a0001c0004t0004g0257 a0001c0004t0004g0261 a0001c0004t0004g0262 a0001c0004t0004g0270 a0001c0004t0004g0290 a0001c0004t0018g0071 a0001c0004t0018g0083 a0001c0004t0018g0134 a0001c0004t0018g0149 a0001c0004t0024g0254 a0001c0004t0024g0255 a0001c0004t0027g0104 a0001c0004t0030g0269 a0001c0004t0031g0084 a0001c0004t0031g0283 a0001c0004t0066g0111 a0001c0004t0072g0065 a0001c0004t0075g0300 a0001c0004t0083g0311 a0001c0005t0001g0075 a0001c0005t0002g0112 a0001c0005t0004g0144 a0001c0005t0005g0099 a0001c0005t0006g0025 a0001c0005t0006g0087 a0001c0005t0006g0124 a0001c0005t0006g0147 a0001c0005t0006g0151 a0001c0005t0006g0202 a0001c0005t0006g0215 a0001c0005t0006g0288 a0001c0005t0006g0289 a0001c0005t0030g0259 a0001c0005t0055g0052 a0001c0005t0057g0093 a0001c0007t0003g0067 a0001c0007t0003g0068 a0001c0007t0003g0284 a0001c0007t0003g0287 a0001c0007t0005g0041 a0001c0007t0005g0140 a0001c0007t0005g0141 a0001c0007t0005g0197 a0001c0007t0005g0246 a0001c0007t0044g0016 a0001c0007t0058g0028 a0001c0007t0059g0029 a0001c0008t0006g0264 a0001c0009t0073g0142 a0001c0015t0002g0129 a0001c0015t0002g0169 a0001c0015t0002g0170 a0001c0015t0006g0102 a0001c0015t0008g0209 a0001c0016t0016g0069 a0001c0016t0016g0074 a0001c0016t0016g0136 a0001c0016t0016g0137 a0001c0019t0085g0316 a0001c0021t0005g0026 a0001c0021t0005g0027 a0001c0023t0002g0260 a0001c0023t0074g0315 a0001c0035t0002g0033 a0001c0036t0006g0210 a0001c0049t0049g0096 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0126 a0002c0002t0001g0154 a0002c0002t0001g0200 a0002c0002t0001g0225 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0009g0001 a0002c0002t0009g0034 a0002c0002t0009g0086 a0002c0002t0009g0109 a0002c0002t0009g0110 a0002c0002t0013g0082 a0002c0002t0013g0088 a0002c0002t0017g0073 a0002c0002t0017g0092 a0002c0002t0017g0247 a0002c0002t0017g0286 a0002c0002t0023g0199 a0002c0002t0023g0213 a0002c0002t0023g0214 a0002c0002t0026g0042 a0002c0002t0026g0285 a0002c0002t0028g0217 a0002c0002t0062g0268 a0002c0022t0001g0023 a0002c0022t0009g0036 a0002c0033t0009g0243 a0004c0037t0065g0125 a0005c0034t0006g0218	109	320	0.3406	-40	c.507 others(55): Show c.507-214_507-175delTGTTTTGGGGGTGGGCTGTGGGTGTGGACA GGAAGCTGGG	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	4/41			chr1	TogoVar
CHD8_chr14_21380199_21461123	21442718	AGGGAGGA others(33): Show AGGGAGGAGAGGGGAAGAGACGGGAGGAGAGGGGAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG02145.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0242 a0001c0001t0003g0218 a0001c0001t0003g0242	2	260	0.0077	-40	c.-21 others(61): Show c.-215-10900_-215-10861delCTCTCCTCCCCTCTCCTCCCGTCT CTTCCCCTCTCCTCCC	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37			chr14	TogoVar
CHD8_chr14_21380199_21461123	21442738	CGGGAGGA others(33): Show CGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03453.hp2 HG03130.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0033 a0001c0003t0002g0034	2	260	0.0077	-40	c.-21 others(61): Show c.-215-10920_-215-10881delCTCTCCTCCCCTCTCCTCCCCTCT CCTCCCCTCTCCTCCC	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37			chr14	TogoVar
CHGA_chr14_92918150_92940285	92929294	ACCAGCCA others(33): Show ACCAGCCAGGTCCTGAGGGGTTCCCCACCCCCAACTCCTGC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02071.hp2 HG02109.hp1 others(8): Show HG01192.hp2 HG02071.hp2 HG02109.hp1 HG02258.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG03041.hp1 HG03041.hp2 HG03540.hp2 NA19043.hp2	a0001 a0027 a0001 a0027	a0001c0001 a0027c0033 a0001c0001 a0027c0033	a0001c0001t0001 a0001c0001t0004 a0027c0033t0004 a0001c0001t0001 a0001c0001t0004 a0027c0033t0004	a0001c0001t0001g0011 a0001c0001t0001g0054 a0001c0001t0001g0079 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0004g0011 a0001c0001t0004g0037 a0001c0001t0004g0064 a0027c0033t0004g0011	11	447	0.0246	-40	c.257 others(55): Show c.257-340_257-301delAGCCAGGTCCTGAGGGGTTCCCCACCCCCA ACTCCTGCCC	CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
CHMP3_chr2_86498430_86568443	86545498	TGGGGCGA others(33): Show TGGGGCGACTGCCGGGCAGAGGCGCTCCTCACTTCCCAGAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(162): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp1 NA18991.hp1 NA18992.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0031 a0001c0001t0032 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0016 a0001c0002t0028 a0001c0002t0033	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 others(150): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0017 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0173 a0001c0001t0009g0175 a0001c0001t0009g0177 a0001c0001t0009g0179 a0001c0001t0009g0181 a0001c0001t0009g0190 a0001c0001t0009g0211 a0001c0001t0009g0248 a0001c0001t0009g0255 a0001c0001t0013g0021 a0001c0001t0014g0225 a0001c0001t0014g0226 a0001c0001t0017g0253 a0001c0001t0018g0176 a0001c0001t0019g0254 a0001c0001t0020g0265 a0001c0001t0023g0125 a0001c0001t0031g0172 a0001c0001t0032g0184 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0005g0164 a0001c0002t0006g0022 a0001c0002t0006g0280 a0001c0002t0006g0282 a0001c0002t0006g0283 a0001c0002t0006g0284 a0001c0002t0006g0285 a0001c0002t0006g0286 a0001c0002t0006g0287 a0001c0002t0006g0288 a0001c0002t0006g0289 a0001c0002t0006g0291 a0001c0002t0006g0292 a0001c0002t0006g0295 a0001c0002t0006g0296 a0001c0002t0006g0310 a0001c0002t0007g0004 a0001c0002t0007g0279 a0001c0002t0007g0297 a0001c0002t0007g0299 a0001c0002t0007g0300 a0001c0002t0007g0301 a0001c0002t0007g0302 a0001c0002t0007g0303 a0001c0002t0007g0304 a0001c0002t0007g0307 a0001c0002t0007g0309 a0001c0002t0011g0281 a0001c0002t0011g0298 a0001c0002t0011g0305 a0001c0002t0011g0306 a0001c0002t0011g0308 a0001c0002t0016g0290 a0001c0002t0016g0293 a0001c0002t0028g0166 a0001c0002t0033g0294	165	336	0.4911	-40	c.46- others(55): Show c.46-3226_46-3187delGTCTGGGAAGTGAGGAGCGCCTCTGCCCGG CAGTCGCCCC	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5			chr2	TogoVar
CHMP6_chr17_80986841_81005133	80994856	GCCCGGGC others(33): Show GCCCGGGCAGCGTGGGCACCCTGTCGGCTGGGGTGGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01346.hp1 HG01167.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	2	438	0.0046	-40	c.174 others(55): Show c.174-160_174-121delCGGGCAGCGTGGGCACCCTGTCGGCTGGGG TGGGGGGCCC	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHM_chrX_85856180_86052558	86021134	ATATATAT others(33): Show ATATATATATATATATATATATATACACGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp1 HG01257.hp1 others(3): Show HG00099.hp1 HG01070.hp1 HG01257.hp1 HG02698.hp1 HG02738.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0151 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154	6	245	0.0245	-40	c.116 others(57): Show c.116+6317_116+6356delCACATATATATACGTGTATATATATATA TATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110697814	CCACACAC others(33): Show CCACACACACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02572.hp1 others(5): Show HG01109.hp1 HG01243.hp1 HG02572.hp1 HG02615.hp2 HG03195.hp2 HG03516.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0008 a0001c0002t0012 a0001c0002t0022 others(2): Show a0001c0002t0008 a0001c0002t0012 a0001c0002t0022 a0001c0002t0023 a0001c0006t0008	a0001c0002t0008g0010 a0001c0002t0008g0014 a0001c0002t0008g0111 others(5): Show a0001c0002t0008g0010 a0001c0002t0008g0014 a0001c0002t0008g0111 a0001c0002t0012g0011 a0001c0002t0012g0015 a0001c0002t0022g0028 a0001c0002t0023g0013 a0001c0006t0008g0006	8	172	0.0465	-40	c.609 others(57): Show c.609+2800_609+2839delTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTG	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	7/11			chrX	TogoVar
CHRM3_chr1_239381568_239920450	239383381	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0023 a0001c0001t0030g0023	1	116	0.0086	-40	c.-43 others(51): Show c.-4366_-4327delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		3186		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404402	AAGAAAGA others(33): Show AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0075 a0001c0001t0014g0075	1	116	0.0086	-40	c.-52 others(61): Show c.-521+17177_-521+17216delGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA4_chr20_63338223_63366349	63366189	GGTGCTCC others(33): Show GGTGCTCCCTGCCCTCTCCTAGTGCTCCCTGCCCTCTCCTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01255.hp2 HG04204.hp1 HG01070.hp1 HG01255.hp2 HG04204.hp1	a0000 a0001 a0000 a0001	a0000c0006 a0001c0001 a0001c0002 a0000c0006 a0001c0001 a0001c0002	a0000c0006t0028 a0001c0001t0019 a0001c0002t0001 a0000c0006t0028 a0001c0001t0019 a0001c0002t0001	a0000c0006t0028g0079 a0001c0001t0019g0031 a0001c0002t0001g0050 a0000c0006t0028g0079 a0001c0001t0019g0031 a0001c0002t0001g0050	3	168	0.0179	-40	c.-50 others(51): Show c.-5064_-5025delTAGGAGAGGGCAGGGAGCACTAGGAGAGGGCAGG GAGCAC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		4841		chr20	TogoVar
CHRNB3_chr8_42692366_42742407	42723065	TAATAGGA others(33): Show TAATAGGATATCCTATTACTTAGATATTTACTAAAATATCG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01175.hp2 others(16): Show HG01070.hp1 HG01071.hp2 HG01175.hp2 HG02004.hp1 HG02055.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02622.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03209.hp2 HG03490.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0004t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0007 a0002c0002t0004	a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0055 others(16): Show a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0130 a0001c0001t0002g0144 a0001c0001t0002g0220 a0001c0004t0007g0025 a0001c0004t0007g0026 a0002c0002t0004g0119 a0002c0002t0004g0120 a0002c0002t0004g0121 a0002c0002t0004g0122 a0002c0002t0004g0123 a0002c0002t0004g0124 a0002c0002t0004g0125 a0002c0002t0004g0126 a0002c0002t0004g0138	19	282	0.0674	-40	c.250 others(57): Show c.250-7488_250-7449delAATAGGATATCCTATTACTTAGATATTT ACTAAAATATCG	CHRNB3	ENSG00000147432.7	transcript	ENST00000289957.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHRNB4_chr15_78619111_78646210	78632195	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTCTTTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0014 a0005c0008t0014	a0005c0008t0014g0054 a0005c0008t0014g0054	1	416	0.0024	-40	c.205 others(55): Show c.205-903_205-864delGAGAGAGAGAGAGAGAGAAAGAGAAAGAAA GAAAGAAAGA	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding	2/5			chr15	TogoVar
CHST12_chr7_2398611_2453484	2452522	GCCCTGCC others(33): Show GCCCTGCCCTGCCCTGCCCTGCCCTGCCCTGCCCTCCCCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0206 a0001c0001t0206	a0001c0001t0206g0233 a0001c0001t0206g0233	1	344	0.0029	-40	c.18 others(53): Show c.18639_*18678delCCCTGCCCTGCCCTGCCCTGCCCTGCCCTGCC CTCCCCTC	CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding		4039		chr7	TogoVar
CHST12_chr7_2398611_2453484	2452532	GCCCTGCC others(33): Show GCCCTGCCCTGCCCTGCCCTGCCCTCCCCTCCCCTCCCCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0301 a0001c0001t0301	a0001c0001t0301g0260 a0001c0001t0301g0260	1	344	0.0029	-40	c.18 others(53): Show c.18649_*18688delCCCTGCCCTGCCCTGCCCTGCCCTCCCCTCCC CTCCCCTC	CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding		4049		chr7	TogoVar
CHST12_chr7_2398611_2453484	2452537	GCCCTGCC others(33): Show GCCCTGCCCTGCCCTGCCCTCCCCTCCCCTCCCCTCCCCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01346.hp2 HG01515.hp1 others(6): Show HG00280.hp1 HG01346.hp2 HG01515.hp1 HG02572.hp2 HG02809.hp1 HG02965.hp1 NA19009.hp2 NA19081.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0063 a0001c0001t0090 a0001c0001t0100 others(6): Show a0001c0001t0063 a0001c0001t0090 a0001c0001t0100 a0001c0001t0168 a0001c0001t0181 a0001c0001t0222 a0001c0001t0257 a0001c0001t0269 a0001c0009t0091	a0001c0001t0063g0118 a0001c0001t0090g0159 a0001c0001t0100g0206 others(6): Show a0001c0001t0063g0118 a0001c0001t0090g0159 a0001c0001t0100g0206 a0001c0001t0168g0205 a0001c0001t0181g0273 a0001c0001t0222g0054 a0001c0001t0257g0085 a0001c0001t0269g0068 a0001c0009t0091g0263	9	344	0.0262	-40	c.18 others(53): Show c.18654_*18693delCCCTGCCCTGCCCTGCCCTCCCCTCCCCTCCC CTCCCCTC	CHST12	ENSG00000136213.10	transcript	ENST00000618655.2	protein_coding		4054		chr7	TogoVar
CHST14_chr15_40465984_40478158	40475884	CTAATTTT others(33): Show CTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCGTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	412	0.0024	-40	c.35 others(51): Show c.3541_*3580delTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTA CCGTAT	CHST14	ENSG00000169105.8	transcript	ENST00000306243.7	protein_coding		2727		chr15	TogoVar
CHST8_chr19_33616953_33778506	33757387	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	254	0.0039	-40	c.131 others(59): Show c.131-13929_131-13890delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757486	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02273.hp1 HG01943.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0108 a0001c0001t0001g0109	2	254	0.0079	-40	c.131 others(59): Show c.131-13925_131-13886delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757490	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	254	0.0039	-40	c.131 others(59): Show c.131-13921_131-13882delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CIP2A_chr3_108544864_108594438	108575300	GTACGTAC others(33): Show GTACGTACACACACGTGCATGTACACACACGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20300.hp1 HG01884.hp2 NA20300.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0003 a0006c0007t0003	a0006c0007t0003g0355 a0006c0007t0003g0356 a0006c0007t0003g0355 a0006c0007t0003g0356	2	372	0.0054	-40	c.894 others(55): Show c.894+931_894+970delTATATATACACGTGTGTGTACATGCACGTG TGTGTACGTA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLCN3_chr4_169615578_169728673	169679863	AGGGAGAC others(33): Show AGGGAGACCGTGGAAGGCGGGAGTCGGAGACGAGGGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00558.hp1 others(58): Show HG00140.hp2 HG00280.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG01069.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02273.hp1 HG02451.hp2 HG02738.hp1 HG02976.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp2 NA18947.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp2 NA18965.hp2 NA18970.hp1 NA18972.hp1 NA18974.hp2 NA18981.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA19003.hp2 NA19007.hp1 NA19012.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19078.hp2 NA19083.hp2 NA19087.hp2 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 others(5): Show a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0017 a0001c0002t0036 a0001c0002t0041 a0001c0002t0050 a0001c0004t0002	a0001c0002t0002g0004 a0001c0002t0002g0032 a0001c0002t0002g0052 others(56): Show a0001c0002t0002g0004 a0001c0002t0002g0032 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0008g0086 a0001c0002t0008g0106 a0001c0002t0009g0053 a0001c0002t0009g0096 a0001c0002t0009g0097 a0001c0002t0009g0098 a0001c0002t0009g0099 a0001c0002t0017g0005 a0001c0002t0036g0095 a0001c0002t0041g0100 a0001c0002t0050g0104 a0001c0004t0002g0065	61	288	0.2118	-40	c.161 others(55): Show c.161-172_161-133delGGCGGGAGTCGGAGACGAGGGAGAGGGGGA GACCGTGGAA	CLCN3	ENSG00000109572.16	transcript	ENST00000513761.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CLEC2L_chr7_139518685_139549985	139520442	CCTAGATG others(33): Show CCTAGATGGGATGGCGGCCGGGAAGAGGCACTCCTCACTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0110 a0001c0007t0003g0110	1	308	0.0033	-40	c.-34 others(51): Show c.-3485_-3446delCTAGATGGGATGGCGGCCGGGAAGAGGCACTCCT CACTTT	CLEC2L	ENSG00000236279.7	transcript	ENST00000422142.7	protein_coding		3242		chr7	TogoVar
CLIC5_chr6_45893456_46020860	46006093	CATATATA others(33): Show CATATATATATATATATATACACATGTATAAATACATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp1 HG02451.hp1 others(7): Show HG01081.hp1 HG02257.hp1 HG02451.hp1 HG02647.hp2 HG03579.hp2 HG04199.hp2 NA19003.hp1 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(7): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0047 a0001c0001t0002g0019 a0001c0001t0003g0068 a0001c0001t0004g0208 a0001c0001t0014g0005	10	340	0.0294	-40	c.63+ others(55): Show c.63+9347_63+9386delATATATGTATTTATACATGTGTATATATAT ATATATATAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLMP_chr11_123064872_123200248	123118929	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01168.hp1 HG01167.hp2 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0002g0214 a0001c0001t0001g0052 a0001c0001t0002g0214	2	254	0.0079	-40	c.29- others(57): Show c.29-21017_29-20978delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123118983	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0187 a0001c0001t0043g0187	1	254	0.0039	-40	c.29- others(57): Show c.29-21071_29-21032delGAGAGAGAGAGAGAGAGAGAGAGAAAGA AAGAAAGAAAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLPB_chr11_72280495_72439531	72297636	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	206	0.0049	-40	c.142 others(59): Show c.1420-2028_1420-1989delACACACACACACACACACACACACAC ACACACACACACAC	CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	12/16			chr11	TogoVar
CLPS_chr6_35789982_35802323	35796165	ACACAAGG others(33): Show ACACAAGGCCCCTAGACAAGTTCTCCAAACCACTCTGGGTC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	418	0.0024	-40	c.85- others(53): Show c.85-352_85-313delGACCCAGAGTGGTTTGGAGAACTTGTCTAGGG GCCTTGTG	CLPS	ENSG00000137392.10	transcript	ENST00000259938.7	protein_coding	1/2			chr6	TogoVar
CLSTN2_chr3_139930185_140582397	140135097	CACACACA others(33): Show CACACACACACACACACACACATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03098.hp2 HG03209.hp2 HG02559.hp1 HG03098.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0017 a0001c0001 a0001c0009 a0002c0017	a0001c0001t0002 a0001c0009t0022 a0002c0017t0005 a0001c0001t0002 a0001c0009t0022 a0002c0017t0005	a0001c0001t0002g0091 a0001c0009t0022g0049 a0002c0017t0005g0027 a0001c0001t0002g0091 a0001c0009t0022g0049 a0002c0017t0005g0027	3	110	0.0273	-40	c.110 others(59): Show c.110-40852_110-40813delCACACACACACACACACACATATATA TATATATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMIP_chr16_81439808_81716762	81551150	CACCCCAG others(33): Show CACCCCAGTTCCATCACATATGTCCCAGTTCTATCACACGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG02897.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263	3	268	0.0112	-40	c.301 others(59): Show c.301-56399_301-56360delTATGTCCCAGTTCTATCACACGTACC CCAGTTCCATCACA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206172035	ATGGGATG others(33): Show ATGGGATGGCGGCCGGGACGAGGCGCTCCTCACTTCCCAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03516.hp1 HG03139.hp1 HG03195.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0132 a0001c0001t0005g0311 a0001c0001t0005g0312	3	322	0.0093	-40	c.41 others(51): Show c.4105_*4144delCCTGGGAAGTGAGGAGCGCCTCGTCCCGGCCGCC ATCCCA	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		3280		chr2	TogoVar
CMSS1_chr3_99812862_100186732	99983446	GTATATAT others(33): Show GTATATATATATATGTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0018 a0001c0001t0021g0018	1	232	0.0043	-40	c.65- others(59): Show c.65-163513_65-163474delGTGTGTATATATATATATATATATAT ATATATATATATAT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100115551	TTCTCTTT others(33): Show TTCTCTTTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0082 a0001c0001t0005g0082	1	232	0.0043	-40	c.65- others(57): Show c.65-31416_65-31377delTTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTCT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100115557	TTCTCTCT others(33): Show TTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG02015.hp2 others(25): Show HG00280.hp1 HG00423.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02451.hp2 HG02647.hp1 HG02717.hp1 HG02735.hp1 HG02895.hp1 HG03041.hp1 HG03942.hp1 NA18612.hp2 NA18954.hp1 NA18959.hp2 NA18963.hp1 NA18969.hp1 NA18972.hp2 NA19007.hp2 NA19065.hp2 NA19066.hp1 NA19083.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0102 a0001c0001t0002g0013 a0001c0001t0002g0073 others(25): Show a0001c0001t0001g0102 a0001c0001t0002g0013 a0001c0001t0002g0073 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0008g0087 a0001c0001t0008g0088	28	232	0.1207	-40	c.65- others(57): Show c.65-31398_65-31359delGTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results