Joint Open Genome and Omics Platform (JoGo)

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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)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FOXK2_chr17_82514732_82609602	82586454	G G	GGGGAATG others(40): Show GGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0245 a0001c0006t0006g0245	1	308	0.0033	47	c.157 others(64): Show c.1576+257_1576+258insAATGGAGGAGAGGGGAGACCACAGGGAG GTCAAAGGTGGGCAGTGGG		FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXQ1_chr6_1307098_1319758	1316945	A A	ACCCCCCT others(40): Show ACCCCCCTCCCGCCCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	47	c.30 others(58): Show c.3029_*3030insCCCCCCTCCCGCCCCCCCCCTCCAGCCTACCCCT CCCCCCGCCCACC		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					2188		chr6	TogoVar
FRK_chr6_115926149_116065891	115958644	A A	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0260 a0001c0001t0003g0260	1	274	0.0037	47	c.800 others(64): Show c.800-2035_800-2034insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT		FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	4/7						chr6	TogoVar
FRMD3_chr9_83239622_83543401	83407845	C C	CTCTCTCT others(40): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATCTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03453.hp2 HG01071.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0016 a0001c0001t0006 a0001c0001t0016	a0001c0001t0006g0029 a0001c0001t0016g0082 a0001c0001t0006g0029 a0001c0001t0016g0082	2	242	0.0083	47	c.148 others(66): Show c.148-18138_148-18137insAAGATGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGA		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13						chr9	TogoVar
FRMD3_chr9_83239622_83543401	83407847	C C	CTCTCTCT others(40): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATCTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03834.hp2 NA19064.hp2 HG01952.hp2 HG03834.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0009 a0001c0002t0003 a0001c0001t0006 a0001c0001t0009 a0001c0002t0003	a0001c0001t0006g0076 a0001c0001t0009g0065 a0001c0002t0003g0038 a0001c0001t0006g0076 a0001c0001t0009g0065 a0001c0002t0003g0038	3	242	0.0124	47	c.148 others(66): Show c.148-18140_148-18139insAAGATGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGA		FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13						chr9	TogoVar
FRMD4A_chr10_13638706_14335924	13714019	A A	AATATACA others(40): Show AATATACATATATAAAATATACATATATATAAAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	134	0.0075	47	c.760 others(64): Show c.760-6907_760-6906insATATATAATATATATTTTATATATATGT ATATTTTATATATGTATAT		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	12/24						chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13714019	A A	AATATACA others(40): Show AATATACATATATAAAATATACATATATATAAAATATATATTTTATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01981.hp2 HG03041.hp2 others(1): Show HG01361.hp1 HG01981.hp2 HG03041.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0020 a0001c0003t0001	a0001c0001t0001g0096 a0001c0001t0003g0079 a0001c0001t0020g0026 others(1): Show a0001c0001t0001g0096 a0001c0001t0003g0079 a0001c0001t0020g0026 a0001c0003t0001g0078	4	134	0.0299	47	c.760 others(64): Show c.760-6907_760-6906insATATAAAATATATATTTTATATATATGT ATATTTTATATATGTATAT		FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	12/24						chr10	TogoVar
FSTL1_chr3_120387293_120455992	120413800	C C	CCTCCCCC others(40): Show CCTCCCCCTCCCCCTCCCTCTCCCCCTCCCTCTCCCTCTCCCCACGGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0065 a0001c0001t0008g0065	1	332	0.0030	47	c.169 others(64): Show c.169-1818_169-1817insACCGTGGGGAGAGGGAGAGGGAGGGGGA GAGGGAGGGGGAGGGGGAG		FSTL1	ENSG00000163430.13	transcript	ENST00000295633.8	protein_coding	3/10						chr3	TogoVar
FSTL1_chr3_120387293_120455992	120413800	C C	CCTCCCCC others(40): Show CCTCCCCCTCCCTCTCCCTCTCCCCCTCCCTCTCCCTCTCCCCACGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(248): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0025 others(236): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0295 a0001c0001t0001g0302 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0067 a0001c0001t0002g0080 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0259 a0001c0001t0002g0270 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0305 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0081 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0134 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0167 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0020 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0066 a0001c0001t0004g0073 a0001c0001t0004g0106 a0001c0001t0004g0188 a0001c0001t0004g0228 a0001c0001t0004g0255 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0269 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0286 a0001c0001t0004g0304 a0001c0001t0006g0070 a0001c0001t0006g0071 a0001c0001t0006g0222 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0234 a0001c0001t0006g0245 a0001c0001t0006g0251 a0001c0001t0006g0285 a0001c0001t0007g0169 a0001c0001t0007g0244 a0001c0001t0008g0059 a0001c0001t0008g0060 a0001c0001t0008g0061 a0001c0001t0008g0062 a0001c0001t0008g0063 a0001c0001t0008g0064 a0001c0001t0008g0069 a0001c0001t0008g0072 a0001c0001t0008g0238 a0001c0001t0008g0257 a0001c0001t0008g0262 a0001c0001t0008g0303 a0001c0001t0010g0148 a0001c0001t0010g0156 a0001c0001t0010g0173 a0001c0001t0010g0177 a0001c0001t0010g0221 a0001c0001t0011g0241 a0001c0001t0011g0242 a0001c0001t0011g0253 a0001c0001t0013g0267 a0001c0001t0013g0268 a0001c0001t0014g0239 a0001c0001t0014g0240 a0001c0001t0016g0046 a0001c0001t0018g0026 a0001c0001t0020g0042 a0001c0001t0021g0045 a0001c0001t0022g0161 a0001c0001t0023g0023 a0001c0001t0024g0211 a0001c0001t0025g0284 a0001c0001t0027g0175 a0001c0001t0028g0087 a0001c0002t0001g0147 a0001c0002t0001g0172	251	332	0.7560	47	c.169 others(64): Show c.169-1818_169-1817insACCGTGGGGAGAGGGAGAGGGAGGGGGA GAGGGAGAGGGAGGGGGAG		FSTL1	ENSG00000163430.13	transcript	ENST00000295633.8	protein_coding	3/10						chr3	TogoVar
FST_chr5_53475629_53492134	53478577	A A	AAAGAGAG others(40): Show AAAGAGAGGGGAGAAAAGGGAGGGAGAGTACGGGTAGAGTCTGGGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	462	0.0022	47	c.-22 others(58): Show c.-2215_-2214insAAGAGAGGGGAGAAAAGGGAGGGAGAGTACGGGT AGAGTCTGGGTAG		FST	ENSG00000134363.12	transcript	ENST00000256759.8	protein_coding					2051		chr5	TogoVar
FTCD_chr21_46131779_46160579	46133686	A A	AGGATGAG others(40): Show AGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0190	1	230	0.0044	47	c.33 others(58): Show c.3300_*3301insCGGAATAGGCTGAGCCCTGGTCCAGTGTGACTCG GGTGAGCTCATCC		FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding					3092		chr21	TogoVar
FTCD_chr21_46131779_46160579	46145471	C C	CGAAGCCT others(40): Show CGAAGCCTCGCGGAAGGGCGGGATCAGGCGCCGCATCGTCGTGTCCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG04184.hp2 HG04184.hp2	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0002 a0014c0027t0002	a0014c0027t0002g0073 a0014c0027t0002g0073	1	230	0.0044	47	c.115 others(56): Show c.1159_1205dupCTGGACACGACGATGCGGCGCCTGATCCCGCCCTTC CGCGAGGCTTC	p.Ala others(5): Show p.Ala403fs	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/14	1261/1890	1205/1626	402/541			chr21	TogoVar
FUT10_chr8_33365824_33478146	33380202	C C	CTATATAT others(40): Show CTATATATATATACTATATATATATATACTATATATATATATACTATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02895.hp1 others(1): Show HG02055.hp2 HG02451.hp2 HG02895.hp1 HG03579.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0004 a0011c0018 a0001c0001 a0001c0004 a0011c0018	a0001c0001t0007 a0001c0004t0007 a0011c0018t0007 a0001c0001t0007 a0001c0004t0007 a0011c0018t0007	a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0004t0007g0044 others(1): Show a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0004t0007g0044 a0011c0018t0007g0049	4	268	0.0149	47	c.121 others(66): Show c.1213-7399_1213-7398insTATAGTATATATATATATAGTATATA TATATATAGTATATATATATA		FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	4/4						chr8	TogoVar
FUZ_chr19_49801866_49818292	49812306	A A	ACCTCAGA others(40): Show ACCTCAGATGACAGAACAATGAGGGTGATGCTGTGGAATGGAAGTGAG	frameshift_variant frameshift_variant	HIGH	NA18944.hp2 NA18944.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0061 a0008c0011t0002g0061	1	410	0.0024	47	c.234 others(57): Show c.234-18_262dupCTCACTTCCATTCCACAGCATCACCCTCATTGTTC TGTCATCTGAGG	p.Val others(4): Show p.Val88fs	FUZ	ENSG00000010361.14	transcript	ENST00000313777.9	protein_coding	3/11	448/1728	262/1257	88/418			chr19	TogoVar
GAK_chr4_844277_937316	927494	C C	CCGCACTG others(40): Show CCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02602.hp1 HG02300.hp1 HG02602.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0355 a0003c0006t0001g0356 a0001c0001t0001g0355 a0003c0006t0001g0356	2	390	0.0051	47	c.145 others(64): Show c.145+4548_145+4549insAGGCAGTGCGGACTGCAGGTGAGCCGGG AGGGGTGCGGGGCAGTGCG		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27						chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805322	A A	ACCCTCCC others(40): Show ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0112 a0002c0002t0002g0112	1	314	0.0032	47	c.11 others(58): Show c.1156_*1157insCCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1036		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805669	A A	ACCTTCCC others(40): Show ACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0165 a0003c0003t0001g0165	1	314	0.0032	47	c.15 others(58): Show c.1503_*1504insCCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1383		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805895	A A	ACCCTCCC others(40): Show ACCCTCCCTCCCTCCCCGCTCAGCCCAGGGACCTCCGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	314	0.0032	47	c.17 others(58): Show c.1729_*1730insCCCTCCCTCCCTCCCCGCTCAGCCCAGGGACCTC CGCAGGCCACCCT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1609		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806722	T T	TTCCCTCC others(40): Show TTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	314	0.0032	47	c.25 others(58): Show c.2556_*2557insTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCC		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2436		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806758	A A	ACCCTCCC others(40): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	314	0.0032	47	c.25 others(58): Show c.2592_*2593insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCTTCCCT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2472		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807097	A A	ACCCTCCC others(40): Show ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	314	0.0032	47	c.29 others(58): Show c.2931_*2932insCCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2811		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807214	A A	ACCCTCCC others(40): Show ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0134 a0006c0006t0001g0134	1	314	0.0032	47	c.30 others(58): Show c.3048_*3049insCCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2928		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807370	A A	ACCCTCCC others(40): Show ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0098 a0002c0002t0002g0098	1	314	0.0032	47	c.32 others(58): Show c.3204_*3205insCCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3084		chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298575	T T	TATATACA others(40): Show TATATACAATTTTATATATAATATATTAAGATTCTAATGAATATATAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01243.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0017 a0001c0001t0008g0019 a0001c0001t0008g0017 a0001c0001t0008g0019	2	214	0.0094	47	c.976 others(64): Show c.976-2834_976-2833insATATACAATTTTATATATAATATATTAA GATTCTAATGAATATATAA		GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12						chr2	TogoVar
GALNT9_chr12_132191372_132334589	132233119	C C	CCCTAGTG others(40): Show CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19012.hp1 NA19063.hp1 NA19007.hp1 NA19012.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0001t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0161 a0001c0001t0008g0003 a0001c0002t0001g0134 a0001c0001t0001g0161 a0001c0001t0008g0003 a0001c0002t0001g0134	3	183	0.0164	47	c.107 others(68): Show c.1077+14790_1077+14791insACTCCACACTGTCTCCTCTGTCGC CCCATCGAGTGTGTGGCACTAGG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234348	G G	GAGGAGAC others(40): Show GAGGAGACAGCGTGGAGTCCCCTACTGCCACACACTCCATGGGGCGAC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	183	0.0055	47	c.107 others(68): Show c.1077+13561_1077+13562insGTCGCCCCATGGAGTGTGTGGCAG TAGGGGACTCCACGCTGTCTCCT		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132260032	T T	TGCCTGGG others(40): Show TGCCTGGGTGCGGGAAACACACCCTGAGCATTGTGGGTGCGGGGCCTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02615.hp1 HG02717.hp1 others(4): Show HG01167.hp1 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0014 others(1): Show a0001c0002 a0001c0006 a0001c0014 a0001c0016	a0001c0002t0001 a0001c0006t0001 a0001c0014t0003 others(1): Show a0001c0002t0001 a0001c0006t0001 a0001c0014t0003 a0001c0016t0001	a0001c0002t0001g0071 a0001c0006t0001g0073 a0001c0006t0001g0078 others(4): Show a0001c0002t0001g0071 a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0014t0003g0074 a0001c0014t0003g0153 a0001c0016t0001g0054	7	183	0.0383	47	c.761 others(62): Show c.761+915_761+916insCAGGCCCCGCACCCACAATGCTCAGGGTGT GTTTCCCGCACCCAGGC		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	4/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132260036	T T	TGGGTGCG others(40): Show TGGGTGCGGGGAACACACCCTGAGCATTGTGGGTGCGGGGCCTGGCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00639.hp2 others(57): Show HG00140.hp1 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp2 HG02080.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02698.hp2 HG02738.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2 HG03834.hp1 HG03942.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18966.hp2 NA18971.hp1 NA18999.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19080.hp1 NA19091.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0013 a0001c0016 a0001c0018 a0001c0025 a0001c0027 a0001c0028 a0001c0030 a0001c0034 a0001c0035 a0001c0036 a0002c0032 a0006c0037	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 others(20): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0002 a0001c0009t0002 a0001c0013t0004 a0001c0016t0001 a0001c0018t0001 a0001c0025t0012 a0001c0027t0001 a0001c0028t0001 a0001c0030t0001 a0001c0034t0004 a0001c0035t0009 a0001c0036t0003 a0002c0032t0002 a0006c0037t0001	a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0043 others(57): Show a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0011g0050 a0001c0002t0001g0004 a0001c0002t0001g0025 a0001c0002t0001g0053 a0001c0002t0001g0063 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0152 a0001c0002t0005g0066 a0001c0002t0013g0021 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0041 a0001c0003t0001g0103 a0001c0003t0001g0123 a0001c0003t0001g0137 a0001c0003t0001g0162 a0001c0004t0001g0016 a0001c0004t0001g0020 a0001c0004t0001g0060 a0001c0004t0001g0076 a0001c0004t0001g0106 a0001c0004t0001g0109 a0001c0004t0001g0112 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0005t0001g0018 a0001c0005t0001g0031 a0001c0005t0001g0113 a0001c0007t0001g0061 a0001c0007t0001g0104 a0001c0007t0001g0159 a0001c0008t0002g0170 a0001c0008t0002g0182 a0001c0009t0002g0169 a0001c0013t0004g0124 a0001c0016t0001g0147 a0001c0018t0001g0039 a0001c0025t0012g0048 a0001c0027t0001g0082 a0001c0028t0001g0144 a0001c0030t0001g0110 a0001c0034t0004g0158 a0001c0035t0009g0140 a0001c0036t0003g0055 a0002c0032t0002g0167 a0006c0037t0001g0010	60	183	0.3279	47	c.761 others(62): Show c.761+911_761+912insGGGCCAGGCCCCGCACCCACAATGCTCAGG GTGTGTTCCCCGCACCC		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	4/10						chr12	TogoVar
GALNTL6_chr4_171808404_173046559	172069584	T T	TATATATA others(40): Show TATATATATAACACATGTGTTATATATAACACATGTGTTATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02451.hp1 others(2): Show HG01884.hp2 HG02145.hp2 HG02451.hp1 HG02647.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0002t0002	a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0004g0002 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0004g0002 a0001c0001t0012g0027 a0001c0002t0002g0007	5	40	0.1250	47	c.139 others(68): Show c.139-160057_139-160056insGTGTTATATATAACACATGTGTTA TATATATAATATATATAACACAT		GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
GALP_chr19_56171008_56190775	56189231	T T	TTGGGGGG others(40): Show TTGGGGGGTGGGGGGGGGGTGGGTGGGTGAGGGGGGGGGGAAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0366 a0002c0003t0001g0366	1	444	0.0023	47	c.39 others(58): Show c.3961_*3962insTGGGGGGTGGGGGGGGGGTGGGTGGGTGAGGGGG GGGGGAAGAGAGG		GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding					3457		chr19	TogoVar
GARIN2_chr14_67184440_67228940	67212598	A A	AAATATAT others(40): Show AAATATATATATATATGTAATATATATTATATATAATATATATTACAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	332	0.0030	47	c.116 others(66): Show c.1160+4150_1160+4151insATATATATATATATGTAATATATATT ATATATAATATATATTACATA		GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
GARIN2_chr14_67184440_67228940	67212608	T T	TATATATG others(40): Show TATATATGTAATATATATTATATATAATATATATTACATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	332	0.0030	47	c.116 others(66): Show c.1160+4166_1160+4212dupGTAATATATATTATATATAATATATA TTACATATATATATAATATAT		GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	300	0.0033	47	c.287 others(64): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAAAAAAAAAAT ATATATATATATATATATA		GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG04184.hp2 HG02523.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0227 a0001c0001t0001g0201 a0001c0001t0001g0227	2	300	0.0067	47	c.287 others(64): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATATATA		GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA20300.hp2 NA18964.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0056 a0001c0001t0001g0034 a0001c0001t0001g0056	2	300	0.0067	47	c.287 others(64): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATA		GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr9	TogoVar
GATA5_chr20_62458497_62480995	62477098	C C	CTTCCTTC others(40): Show CTTCCTTCTTTCTTTCCTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0247 a0002c0005t0001g0247	1	382	0.0026	47	c.-11 others(58): Show c.-1191_-1190insAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAGGA AAGAAAGAAGGAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1104		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477138	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG02109.hp1 others(2): Show HG00280.hp2 HG00733.hp2 HG02109.hp1 NA18966.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0002c0020 a0001c0003 a0002c0005 a0002c0020	a0001c0003t0003 a0002c0005t0001 a0002c0020t0001 a0001c0003t0003 a0002c0005t0001 a0002c0020t0001	a0001c0003t0003g0209 a0002c0005t0001g0241 a0002c0005t0001g0249 others(2): Show a0001c0003t0003g0209 a0002c0005t0001g0241 a0002c0005t0001g0249 a0002c0005t0001g0261 a0002c0020t0001g0243	5	382	0.0131	47	c.-12 others(58): Show c.-1231_-1230insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAA		GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding					1144		chr20	TogoVar
GATA6_chr18_22164589_22207528	22204288	C C	CTCTTCTT others(40): Show CTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	286	0.0035	47	c.34 others(58): Show c.3465_*3466insTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT		GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding					1761		chr18	TogoVar
GATA6_chr18_22164589_22207528	22204288	C C	CTCTTTCT others(40): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	286	0.0035	47	c.34 others(58): Show c.3465_*3466insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCTTTCTT		GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding					1761		chr18	TogoVar
GATD1_chr11_762222_782487	763218	T T	TGCCCCCG others(40): Show TGCCCCCGCCCTCACCCGCCCCGCCCTCACCCGCCCCCGCCCTCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03453.hp2 HG03471.hp1 others(1): Show HG02818.hp1 HG03453.hp2 HG03471.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0012 a0001c0003t0004 a0001c0001t0005 a0001c0001t0012 a0001c0003t0004	a0001c0001t0005g0023 a0001c0001t0005g0035 a0001c0001t0012g0025 others(1): Show a0001c0001t0005g0023 a0001c0001t0005g0035 a0001c0001t0012g0025 a0001c0003t0004g0003	4	430	0.0093	47	c.76 others(58): Show c.7678_*7679insGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGCGGG TGAGGGCGGGGGC		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					4003		chr11	TogoVar
GATD1_chr11_762222_782487	763236	C C	CCCCGCCC others(40): Show CCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	430	0.0023	47	c.76 others(58): Show c.7660_*7661insCCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGC GGGTGAGGGCGGG		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					3985		chr11	TogoVar
GATD1_chr11_762222_782487	763248	C C	CCCGCCCC others(40): Show CCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCCATCCCCGCCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG03139.hp2 HG01884.hp2 HG02559.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	3	430	0.0070	47	c.76 others(58): Show c.7648_*7649insTGAGGGCGGGGATGGGTGAGGGCGGGGATGGGTG AGGGCGGGGGCGG		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					3973		chr11	TogoVar
GATD1_chr11_762222_782487	763250	C C	CGCCCCCG others(40): Show CGCCCCCGCCCTCACCCGCCCCCGCCCTCACCTGCCCCGCCCTCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	430	0.0023	47	c.76 others(58): Show c.7646_*7647insAGGTGAGGGCGGGGCAGGTGAGGGCGGGGGCGGG TGAGGGCGGGGGC		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					3971		chr11	TogoVar
GATD1_chr11_762222_782487	763252	T T	TCCCCGCC others(40): Show TCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	430	0.0023	47	c.76 others(58): Show c.7644_*7645insGCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGAC GGTGAGGGCGGGG		GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding					3969		chr11	TogoVar
GDF7_chr2_20662144_20684243	20677792	G G	GGAATCTG others(40): Show GGAATCTGGGACTGGAGCCCCAAGCACTCCGGATCTCTTTTGGATGAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0001 a0001c0001t0104g0001	1	442	0.0023	47	c.63 others(58): Show c.6367_*6368insGAATCTGGGACTGGAGCCCCAAGCACTCCGGATC TCTTTTGGATGAC		GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	2/2				6368		chr2	TogoVar
GGT1_chr22_24598193_24633996	24605822	T T	TTACATAT others(40): Show TTACATATAATATATAATATTATATATTATATGTAATATATAATATTA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0396 a0002c0002t0002g0396	1	426	0.0024	47	c.-42 others(66): Show c.-428-2130_-428-2129insCATATAATATATAATATTATATATTA TATGTAATATATAATATTATA		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GIMD1_chr4_106352392_106373778	106353056	C C	CTGTAGAT others(40): Show CTGTAGATGAGTGGTCATCAACGGAGGAAGGAGACAGGTGACTGCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0074 a0002c0003t0002g0074	1	452	0.0022	47	c.51 others(58): Show c.5126_*5127insACAGCAGTCACCTGTCTCCTTCCTCCGTTGATGA CCACTCATCTACA		GIMD1	ENSG00000250298.6	transcript	ENST00000638719.4	protein_coding					4335		chr4	TogoVar
GJB6_chr13_20216962_20237319	20218592	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCCTTCTTTCCTTCCTCTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0308 a0001c0001t0011g0308	1	460	0.0022	47	c.41 others(58): Show c.4102_*4103insAGAAAGAAAGAAAGAAAGAAGAGGAAGGAAAGAA GGAAAGAAAGAAA		GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding					3369		chr13	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(40): Show GGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	464	0.0022	47	c.204 others(62): Show c.204+500_204+501insGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAA		GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGAAGA others(40): Show GAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0233 a0001c0005t0001g0233	1	394	0.0025	47	c.76- others(62): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTCTT		GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15						chr3	TogoVar

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