Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CSPP1_chr8_67059392_67201614	67159941	C C	CCTCCTTC others(40): Show CCTCCTTCCTTCCTTCTTCCTTCCTTCCTCCTTCCTTCCTTCTTCCTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp1 HG03516.hp2 others(3): Show HG02717.hp2 HG02818.hp1 HG03516.hp2 HG04199.hp1 NA18988.hp2 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0007 a0003c0003 a0002c0002 a0002c0007 a0003c0003	a0002c0002t0002 a0002c0007t0002 a0003c0003t0001 a0002c0002t0002 a0002c0007t0002 a0003c0003t0001	a0002c0002t0002g0124 a0002c0002t0002g0127 a0002c0007t0002g0146 others(3): Show a0002c0002t0002g0124 a0002c0002t0002g0127 a0002c0007t0002g0146 a0003c0003t0001g0019 a0003c0003t0001g0023 a0003c0003t0001g0025	6	158	0.0380	47	c.253 others(64): Show c.2538+806_2538+807insCCTTCCTTCCTTCTTCCTTCCTTCCTCC TTCCTTCCTTCTTCCTTCT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CT45A1_chrX_135708639_135728228	135723962	C C	CATATATG others(40): Show CATATATGGTATATATACCATATATGGTATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	57	0.0175	47	c.92 others(56): Show c.929_*930insATATATGGTATATATACCATATATGGTATATATATA TATATATATAT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		735		chrX	TogoVar
CT45A6_chrX_135789685_135807787	135803898	A A	AAAGAAAG others(40): Show AAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0023 a0004c0006t0003g0023	1	36	0.0278	47	c.-13 others(58): Show c.-1395_-1394insCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTTTCT TTCTCTCTTTCTT	CT45A6	ENSG00000278289.5	transcript	ENST00000620654.2	protein_coding		1112		chrX	TogoVar
CTNNA2_chr2_79508051_80653780	80577704	T T	TGTTTTGT others(40): Show TGTTTTGTTTTTTATTTTTGTTTGTTGTTGTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02257.hp1 HG02965.hp2 others(4): Show HG02148.hp1 HG02257.hp1 HG02965.hp2 HG03130.hp1 HG03225.hp1 HG03688.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0001t0001 a0001c0002t0001 a0001c0010t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0002t0001g0004 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0022 a0001c0002t0001g0064 a0001c0010t0001g0024	7	68	0.1029	47	c.189 others(66): Show c.1893+3390_1893+3391insGTTTTGTTTTTTATTTTTGTTTGTTG TTGTTGTTGTTGTTGTTGTTG	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	13/18			chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66071386	A A	AAAACAAC others(40): Show AAAACAACTAACACATATATGACAGACACTCTTCTTGAAACCATGAAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01243.hp1 others(25): Show HG01070.hp1 HG01070.hp2 HG01243.hp1 HG01243.hp2 HG02145.hp2 HG02280.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03195.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA19080.hp1 NA19080.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0002c0002 a0003c0009 a0004c0008 a0005c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0003t0018 a0001c0003t0022 a0001c0004t0001 a0001c0005t0010 a0001c0006t0001 a0001c0007t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0017 a0003c0009t0003 a0004c0008t0005 a0005c0010t0002	a0001c0001t0001g0015 a0001c0001t0004g0041 a0001c0001t0005g0010 others(25): Show a0001c0001t0001g0015 a0001c0001t0004g0041 a0001c0001t0005g0010 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0027 a0001c0001t0007g0020 a0001c0001t0016g0003 a0001c0001t0021g0012 a0001c0001t0024g0044 a0001c0001t0025g0045 a0001c0003t0018g0037 a0001c0003t0022g0022 a0001c0004t0001g0018 a0001c0005t0010g0029 a0001c0005t0010g0034 a0001c0006t0001g0001 a0001c0007t0015g0016 a0002c0002t0001g0035 a0002c0002t0002g0013 a0002c0002t0003g0039 a0002c0002t0003g0042 a0002c0002t0004g0028 a0002c0002t0005g0014 a0002c0002t0017g0040 a0003c0009t0003g0036 a0004c0008t0005g0033 a0005c0010t0002g0021	28	46	0.6087	47	c.197 others(66): Show c.1978-1898_1978-1897insGTTCATGGTTTCAAGAAGAGTGTCTG TCATATATGTGTTAGTTGTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	14/17			chr10	TogoVar
CYFIP1_chr15_22862052_22985368	22963496	T T	TAACATAA others(40): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACATAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18971.hp2 NA18942.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0067 a0001c0001t0004g0147 a0001c0001t0002g0067 a0001c0001t0004g0147	2	342	0.0059	47	c.-6- others(64): Show c.-6-16252_-6-16206dupTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22963501	T T	TAACATAA others(40): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACATAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19083.hp2 NA19012.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0028 a0001c0002t0002 a0001c0002t0028	a0001c0002t0002g0151 a0001c0002t0028g0250 a0001c0002t0002g0151 a0001c0002t0028g0250	2	342	0.0059	47	c.-6- others(64): Show c.-6-16257_-6-16211dupTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYFIP1_chr15_22862052_22985368	22963511	T T	TAACATAA others(40): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACATAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0146 a0001c0002t0029g0146	1	342	0.0029	47	c.-6- others(64): Show c.-6-16267_-6-16221dupTTATGTTATGTTATGTTATGTTATGTTA TGTTATGTTATGTTATGTT	CYFIP1	ENSG00000273749.5	transcript	ENST00000617928.5	protein_coding	1/30			chr15	TogoVar
CYP2D6_chr22_42121499_42135810	42133481	A A	ATTTTCAT others(40): Show ATTTTCATTTATTTTACCCTACAACTCCAGAATTTTTATTTGGTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	417	0.0024	47	c.-26 others(58): Show c.-2691_-2690insAGGAACCAAATAAAAATTCTGGAGTTGTAGGGTA AAATAAATGAAAA	CYP2D6	ENSG00000100197.23	transcript	ENST00000645361.2	protein_coding		2672		chr22	TogoVar
CYP2W1_chr7_978181_994640	994017	G G	GAGCAGTT others(40): Show GAGCAGTTTCTTGCAGGATTGATGTCTGAGAAAGCTCACACCAAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	408	0.0025	47	c.51 others(58): Show c.5195_*5196insAGCAGTTTCTTGCAGGATTGATGTCTGAGAAAGC TCACACCAAGTGC	CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding		4378		chr7	TogoVar
CYP4F3_chr19_15635897_15667825	15650668	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0043 a0011c0016t0043	a0011c0016t0043g0052 a0011c0016t0043g0052	1	424	0.0024	47	c.918 others(62): Show c.918+486_918+532dupTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650780	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18966.hp1 HG04228.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0228 a0001c0001t0015g0176 a0001c0001t0002g0228 a0001c0001t0015g0176	2	424	0.0047	47	c.918 others(62): Show c.918+617_918+618insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC TTTCTTTCTTTCTTTCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYTH3_chr7_6156779_6277624	6259772	T T	TATAATAT others(40): Show TATAATATATATATATATATAATATATATATAATATATATATATATTA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	348	0.0029	47	c.34+ others(64): Show c.34+12701_34+12702insTAATATATATATATATTATATATATATT ATATATATATATATATTAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
D2HGDH_chr2_241729630_241773811	241760065	C C	CCAATCAG others(40): Show CCAATCAGTCGAAGGCCTTCGCCACAGCGTGGGTGGGCCTTACCCAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp2 others(107): Show HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01943.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03831.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18969.hp1 NA18969.hp2 NA18979.hp2 NA18985.hp2 NA18990.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0015 a0018	a0001c0001 a0001c0012 a0001c0026 others(14): Show a0001c0001 a0001c0012 a0001c0026 a0001c0027 a0002c0002 a0002c0009 a0003c0003 a0004c0005 a0004c0021 a0005c0004 a0005c0018 a0006c0006 a0007c0017 a0008c0011 a0009c0010 a0015c0019 a0018c0025	a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 others(28): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0001c0001t0052 a0001c0012t0008 a0001c0012t0030 a0001c0026t0002 a0001c0027t0002 a0002c0002t0002 a0002c0002t0013 a0002c0002t0033 a0002c0002t0034 a0002c0002t0049 a0002c0009t0008 a0003c0003t0002 a0003c0003t0011 a0003c0003t0013 a0003c0003t0044 a0004c0005t0002 a0004c0005t0013 a0004c0021t0008 a0005c0004t0002 a0005c0004t0005 a0005c0018t0008 a0006c0006t0002 a0007c0017t0008 a0008c0011t0002 a0009c0010t0002 a0015c0019t0002 a0018c0025t0016	a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0033 others(103): Show a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0080 a0001c0001t0002g0100 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0006g0082 a0001c0001t0006g0083 a0001c0001t0006g0172 a0001c0001t0006g0234 a0001c0001t0006g0236 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0006g0267 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0006g0273 a0001c0001t0006g0278 a0001c0001t0006g0282 a0001c0001t0006g0285 a0001c0001t0016g0181 a0001c0001t0016g0184 a0001c0001t0017g0009 a0001c0001t0052g0162 a0001c0012t0008g0031 a0001c0012t0030g0165 a0001c0012t0030g0314 a0001c0026t0002g0087 a0001c0027t0002g0010 a0002c0002t0002g0008 a0002c0002t0002g0070 a0002c0002t0002g0078 a0002c0002t0002g0095 a0002c0002t0002g0098 a0002c0002t0002g0105 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0155 a0002c0002t0013g0152 a0002c0002t0033g0182 a0002c0002t0033g0183 a0002c0002t0034g0264 a0002c0002t0049g0106 a0002c0009t0008g0094 a0002c0009t0008g0099 a0002c0009t0008g0133 a0002c0009t0008g0134 a0002c0009t0008g0136 a0002c0009t0008g0153 a0003c0003t0002g0336 a0003c0003t0002g0337 a0003c0003t0011g0340 a0003c0003t0011g0341 a0003c0003t0011g0342 a0003c0003t0011g0343 a0003c0003t0011g0366 a0003c0003t0011g0367 a0003c0003t0011g0376 a0003c0003t0013g0352 a0003c0003t0013g0368 a0003c0003t0013g0369 a0003c0003t0013g0370 a0003c0003t0044g0316 a0004c0005t0002g0101 a0004c0005t0002g0104 a0004c0005t0013g0149 a0004c0021t0008g0029 a0005c0004t0002g0026 a0005c0004t0002g0345 a0005c0004t0002g0346 a0005c0004t0002g0347 a0005c0004t0005g0024 a0005c0004t0005g0326 a0005c0018t0008g0327 a0006c0006t0002g0296 a0006c0006t0002g0297 a0006c0006t0002g0298 a0006c0006t0002g0299 a0007c0017t0008g0375 a0008c0011t0002g0102 a0009c0010t0002g0361 a0015c0019t0002g0096 a0018c0025t0016g0161	110	412	0.2670	47	c.130 others(66): Show c.1306+4053_1306+4054insATCAGTCGAAGGCCTTCGCCACAGCG TGGGTGGGCCTTACCCAATCA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAPK1_chr9_87492867_87713634	87571474	C C	CACACACA others(40): Show CACACACACACCCCAACACACACACACACACACCCCCCAACACACACA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0121 a0001c0009t0003g0121	1	236	0.0042	47	c.63- others(64): Show c.63-33480_63-33479insACACACACACCCCAACACACACACACAC ACACCCCCCAACACACACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571474	C C	CACACACC others(40): Show CACACACCCCAACACACACACACACACACACCCCCCAACACACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0201 a0001c0005t0001g0201	1	236	0.0042	47	c.63- others(64): Show c.63-33480_63-33479insACACACCCCAACACACACACACACACAC ACCCCCCAACACACACACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAPP1_chr4_99811827_99875190	99865917	A A	ATATATAA others(40): Show ATATATAATATATATAATATATTATATAATATATTATATTATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0222 a0001c0001t0022g0222	1	366	0.0027	47	c.687 others(62): Show c.687-111_687-110insATATATATAATATATTATATAATATATTAT ATTATATATATTATATA	DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
DAP_chr5_10674230_10766234	10726490	T T	TGATCTGC others(40): Show TGATCTGCAAGTGCATTCAAGTTTGGGAGGCTCCTTGGTCACACAGAG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	372	0.0027	47	c.152 others(66): Show c.152+21638_152+21684dupCTCTGTGTGACCAAGGAGCCTCCCAA ACTTGAATGCACTTGCAGATC	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding	2/3			chr5	TogoVar
DBH_chr9_133631363_133664329	133661189	A A	AATTAGCC others(40): Show AATTAGCCAGGCTGTGGTGGTGCGCGTTTGTAATCCTAGCTATTTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	402	0.0025	47	c.27 others(58): Show c.2742_*2743insATTAGCCAGGCTGTGGTGGTGCGCGTTTGTAATC CTAGCTATTTGGG	DBH	ENSG00000123454.12	transcript	ENST00000393056.8	protein_coding		1861		chr9	TogoVar
DCBLD2_chr3_98790941_98906695	98837608	T T	TCACCTCC others(40): Show TCACCTCCCGGACGGGGTGGCTGGCCGGGCAGGGGGGCTGACCCCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02165.hp2 HG04184.hp1 others(3): Show HG00280.hp2 HG02165.hp2 HG04184.hp1 HG04228.hp2 NA19084.hp1 NA20905.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0044 a0003c0006t0007 a0003c0006t0044	a0003c0006t0007g0164 a0003c0006t0007g0166 a0003c0006t0007g0167 others(3): Show a0003c0006t0007g0164 a0003c0006t0007g0166 a0003c0006t0007g0167 a0003c0006t0007g0168 a0003c0006t0007g0169 a0003c0006t0044g0158	6	330	0.0182	47	c.571 others(66): Show c.571+11852_571+11853insGGGGGGGTCAGCCCCCCTGCCCGGCC AGCCACCCCGTCCGGGAGGTG	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DCLK1_chr13_35763652_36136382	35847623	A A	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19005.hp1 NA18994.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0052 a0001c0001t0002g0031 a0001c0001t0001g0052 a0001c0001t0002g0031	2	230	0.0087	47	c.103 others(66): Show c.1035+6875_1035+6876insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	6/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150239917	G G	GAGAAAGG others(40): Show GAGAAAGGTCTGTTTTGTTGCTATTGCTGCTTGTGTATACAGTTGGTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00642.hp2 others(63): Show HG00558.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG02027.hp1 HG02129.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18954.hp1 NA18954.hp2 NA18971.hp2 NA19030.hp2 NA19058.hp1 NA19064.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0007 others(5): Show a0001c0001 a0001c0003 a0001c0007 a0001c0011 a0002c0002 a0002c0006 a0003c0004 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0022 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0007t0001 a0001c0007t0002 a0001c0011t0020 a0002c0002t0004 a0002c0002t0006 a0002c0002t0015 a0002c0002t0018 a0002c0006t0004 a0003c0004t0002 a0003c0004t0003 a0005c0010t0021	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0083 others(63): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0101 a0001c0001t0003g0003 a0001c0001t0003g0009 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0005g0041 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0063 a0001c0001t0005g0094 a0001c0001t0007g0026 a0001c0001t0011g0067 a0001c0001t0012g0062 a0001c0001t0016g0028 a0001c0001t0022g0064 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0003g0018 a0001c0003t0005g0020 a0001c0007t0001g0110 a0001c0007t0002g0106 a0001c0011t0020g0065 a0002c0002t0004g0051 a0002c0002t0004g0052 a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0002t0004g0059 a0002c0002t0004g0070 a0002c0002t0004g0071 a0002c0002t0006g0072 a0002c0002t0015g0031 a0002c0002t0018g0115 a0002c0006t0004g0107 a0003c0004t0002g0011 a0003c0004t0003g0004 a0005c0010t0021g0042	66	116	0.5690	47	c.170 others(64): Show c.1700+132_1700+178dupTGGTAAGAAAGGTCTGTTTTGTTGCTAT TGCTGCTTGTGTATACAGT	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150250966	A A	ACCCCCAC others(40): Show ACCCCCACACACCCCCCACACCACACATCCCTCACACCCCACACACCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0018 a0001c0003t0003g0018	1	116	0.0086	47	c.207 others(66): Show c.2073+1284_2073+1285insCCCACACACCCCCCACACCACACATC CCTCACACCCCACACACCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251048	A A	ATCCCCCA others(40): Show ATCCCCCACACCCCCCACACCCCCCACACCCCCACACCCCCCACACCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	116	0.0086	47	c.207 others(66): Show c.2073+1364_2073+1365insTCCCCCACACCCCCCACACCCCCCAC ACCCCCACACCCCCCACACCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DEAF1_chr11_639233_700222	690306	G G	GAGGGGAG others(40): Show GAGGGGAGGGCAGGGCAGGGGAGGGAGGAGGGGAGGGGAGGGCAGGGC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	345	0.0029	47	c.387 others(64): Show c.387+1194_387+1195insGCCCTGCCCTCCCCTCCCCTCCTCCCTC CCCTGCCCTGCCCTCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690331	G G	GAGGGCAG others(40): Show GAGGGCAGGGAGGGGAGGGCAGGGGAGGGGAGGGGAGGGCAGGAGGGC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	345	0.0029	47	c.387 others(64): Show c.387+1169_387+1170insGCCCTCCTGCCCTCCCCTCCCCTCCCCT GCCCTCCCCTCCCTGCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEFB124_chr20_31460471_31480127	31470610	C C	CCCCCCAC others(40): Show CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02922.hp1 HG03225.hp1 others(3): Show HG02165.hp1 HG02922.hp1 HG03225.hp1 HG03471.hp1 HG06807.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0002 a0001c0001t0002 a0003c0002t0002	a0001c0001t0002g0084 a0001c0001t0002g0107 a0001c0001t0002g0130 others(3): Show a0001c0001t0002g0084 a0001c0001t0002g0107 a0001c0001t0002g0130 a0001c0001t0002g0147 a0003c0002t0002g0118 a0003c0002t0002g0119	6	362	0.0166	47	c.58+ others(62): Show c.58+2345_58+2346insTCAGCCCCCCGCCCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGG	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DENND6B_chr22_50304030_50332012	50307773	G G	GGAGGGGG others(40): Show GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGGAGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0255 a0002c0002t0015g0255	1	326	0.0031	47	c.43 others(58): Show c.4365_*4366insTTCCCCCTCCCCCCTCTTCCCCCTCCCCTCCCCC TCCCCTCCCCCTC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1256		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50307773	G G	GGAGGGGG others(40): Show GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGGAAGAGGGGGAGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0237 a0001c0003t0001g0237	1	326	0.0031	47	c.43 others(58): Show c.4365_*4366insTTCCCCCTCCCCCTCTTCCCCCCTCCCCTCCCCC TCCCCTCCCCCTC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1256		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50307773	G G	GGAGGGGG others(40): Show GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	326	0.0031	47	c.43 others(58): Show c.4365_*4366insTTCCCCCTCCCCCTCTTCCCCCTCCCCTCCCCCT CCCCCTCCCCCTC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1256		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50307773	G G	GGAGGGGG others(40): Show GGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0216 a0002c0002t0001g0216	1	326	0.0031	47	c.43 others(58): Show c.4365_*4366insTTCCCCCTCCCCCTCTTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1256		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50307773	G G	GGGAGGGG others(40): Show GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0249 a0001c0003t0034g0249	1	326	0.0031	47	c.43 others(58): Show c.4365_*4366insTTCCCCCTCCCCCTCTTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1256		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50307775	A A	AGGGGGAG others(40): Show AGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0262 a0002c0008t0001g0262	1	326	0.0031	47	c.43 others(58): Show c.4363_*4364insCTCTTCCCCCTCCCCCTCTTCCCCCTCCCCTCCC CCTCCCCTCCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1254		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50307781	A A	AGGGGAGG others(40): Show AGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGAGGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG04115.hp2 NA19003.hp2 HG01255.hp2 HG04115.hp2 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0259 a0002c0002t0001g0306 a0002c0002t0001g0311 a0001c0003t0001g0259 a0002c0002t0001g0306 a0002c0002t0001g0311	3	326	0.0092	47	c.43 others(58): Show c.4357_*4358insCTCCCCCTCTTCCCCCTCCCCCTCTTCCCCCTCC CCTCCCCCTCCCC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1248		chr22	TogoVar
DENND6B_chr22_50304030_50332012	50317020	C C	CAGGATGG others(40): Show CAGGATGGGGGGCCGCGAGGACAGGGTGGGGGGGGCGGCGAGGACAGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02965.hp1 HG03486.hp2 others(1): Show HG01361.hp1 HG02965.hp1 HG03486.hp2 NA20129.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0016 a0003c0007t0007g0018 a0003c0007t0007g0020 others(1): Show a0003c0007t0007g0016 a0003c0007t0007g0018 a0003c0007t0007g0020 a0003c0007t0007g0021	4	326	0.0123	47	c.453 others(62): Show c.453+272_453+273insCCTGTCCTCGCCGCCCCCCCCACCCTGTCC TCGCGGCCCCCCATCCT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DENND6B_chr22_50304030_50332012	50317020	C C	CAGGGCGG others(40): Show CAGGGCGGGGGGGGCCGCGAGGACAGGATGGGGGGCCGCGAGGACAGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0170 a0001c0004t0004g0170	1	326	0.0031	47	c.453 others(62): Show c.453+272_453+273insCCTGTCCTCGCGGCCCCCCATCCTGTCCTC GCGGCCCCCCCCGCCCT	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding	5/19			chr22	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(40): Show GGGTGGGGGGGTGGGGGGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00673.hp2 others(13): Show HG00544.hp2 HG00558.hp1 HG00673.hp2 HG01258.hp2 HG01517.hp2 HG02129.hp1 HG02886.hp2 HG04184.hp1 NA18957.hp1 NA18995.hp2 NA19002.hp1 NA19010.hp1 NA19060.hp1 NA19074.hp2 NA19081.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0015	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0022 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0107 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0222 a0001c0001t0002g0001 a0001c0001t0002g0052 a0001c0001t0002g0086 a0001c0001t0013g0089 a0001c0001t0015g0035	16	308	0.0520	47	c.67 others(58): Show c.6761_*6762insGCCTCCCCCACCCCCCCACCGCCCCCCCACCCCC CCACCCCCCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DGAT1_chr8_144309584_144331852	144313670	C C	CCCGCCTC others(40): Show CCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	370	0.0027	47	c.28 others(58): Show c.2883_*2884insCGCGGGGAGGCGGGGCGGGGAGGCGGGGAGGCGG TGCGGGGAGGCGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		913		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313723	G G	GCGCCGCC others(40): Show GCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01071.hp1 others(2): Show HG00642.hp2 HG01069.hp2 HG01071.hp1 HG01943.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	5	370	0.0135	47	c.28 others(58): Show c.2830_*2831insAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGCG CGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		860		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCCTCCCC others(40): Show GCCTCCCCGCACCGCCTCCCCGCCCCGCCTCCCCGCGCCGCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	370	0.0027	47	c.27 others(58): Show c.2765_*2766insAGGCGGGGCGGCGCGGGGAGGCGGGGCGGGGAGG CGGTGCGGGGAGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DGKB_chr7_14140049_14907751	14211704	T T	TATTTACT others(40): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02080.hp2 HG00609.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0026 a0001c0001t0001 a0001c0004t0026	a0001c0001t0001g0043 a0001c0004t0026g0138 a0001c0001t0001g0043 a0001c0004t0026g0138	2	148	0.0135	47	c.212 others(68): Show c.2123-33554_2123-33553insTAAAATCACAAAACATGAGAGTAA AATCACAAAACATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14567193	A A	ATATATTA others(40): Show ATATATTATATATATTATATATTTATATATTATATATAATTATATATT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0024 a0001c0017t0024	a0001c0017t0024g0146 a0001c0017t0024g0146	1	148	0.0068	47	c.177 others(66): Show c.1770+7018_1770+7019insAATATATAATTATATATAATATATAA ATATATAATATATATAATATA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	20/25			chr7	TogoVar
DGKD_chr2_233349494_233477098	233397326	A A	ACCAGAGG others(40): Show ACCAGAGGGGACCAGGGTGGCTGAGGGGGGCAGCAGAGTGAGAGGACT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0125 a0001c0002t0003g0125	1	336	0.0030	47	c.348 others(64): Show c.348+6866_348+6912dupAGGGGGGCAGCAGAGTGAGAGGACTCCA GAGGGGACCAGGGTGGCTG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRS7B_chr17_21121964_21196420	21186768	C C	CCAGGTTG others(40): Show CCAGGTTGTGAAGCCCTTGCTCGAGAGCAGGCACAGCTCTGTTTCTTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	382	0.0026	47	c.620 others(64): Show c.620-1942_620-1941insAGGTTGTGAAGCCCTTGCTCGAGAGCAG GCACAGCTCTGTTTCTTGC	DHRS7B	ENSG00000109016.18	transcript	ENST00000395511.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
DIAPH2_chrX_96679842_97609997	96836718	T T	TATATATA others(40): Show TATATATACGTATATATATATATATATATATATATATATACACGTATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0140 a0001c0004t0001g0140	1	147	0.0068	47	c.448 others(66): Show c.448-44861_448-44860insATATATACGTATATATATATATATAT ATATATATATATACACGTATA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96939668	A A	ATTTTTTT others(40): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	147	0.0068	47	c.132 others(64): Show c.1325+300_1325+301insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97241450	A A	ATCTCTGC others(40): Show ATCTCTGCCTCAGCCTCCCGAGTAGCTGGACTACAGGGGCCTGCCACC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	147	0.0068	47	c.272 others(66): Show c.2720-6265_2720-6264insTCTCTGCCTCAGCCTCCCGAGTAGCT GGACTACAGGGGCCTGCCACC	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26			chrX	TogoVar
DIP2B_chr12_50499985_50753657	50593819	C C	CCCCTCCC others(40): Show CCCCTCCCCTCCCCTCCCCTCCCCTGTCCCCTCCCCTCCCGTCCCCTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03710.hp2 HG01261.hp1 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0072 a0001c0003t0002g0069 a0001c0003t0002g0072	2	284	0.0070	47	c.101 others(66): Show c.101-32145_101-32144insCTCCCCTCCCCTGTCCCCTCCCCTCC CGTCCCCTTCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593819	C C	CCCCTCCC others(40): Show CCCCTCCCCTTCCCTCCCCTCCCCTCTCCCCTCCCCTCCCGTCCCCTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0277 a0001c0004t0005g0277	1	284	0.0035	47	c.101 others(66): Show c.101-32148_101-32147insTCCCTCCCCTCCCCTCTCCCCTCCCC TCCCGTCCCCTTCCCTCCCCT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	321789	A A	AGAGACCG others(40): Show AGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCCAGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	88	0.0114	47	c.392 others(66): Show c.3924+5216_3924+5217insGCTGGACCCCCGCACCCCCGACTGAC TGTTCTAACAACGCCGGTCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar

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