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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GALNT8_chr12_4715400_4777726	4732587	T T	TGTTCAAT others(162): Show TGTTCAATATGATAGCTACTAGTCACACATGGCTACTTAAATGTAAATTA ATTAAAATTATTTGCTTGAGGTGGTACACTGTGATTCTCTGCTGGGAGGA GTGGCTAGAGATCTGTTCCTCTAGATGTCATCCAACCAACAAACACTTTT TCAGTATCTTCTGCTGCACC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01952.hp2 HG03098.hp1 others(1): Show HG01109.hp1 HG01952.hp2 HG03098.hp1 HG03704.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0009 a0001c0001 a0002c0002 a0008c0009	a0001c0001t0003 a0002c0002t0002 a0008c0009t0002 a0001c0001t0003 a0002c0002t0002 a0008c0009t0002	a0001c0001t0003g0056 a0002c0002t0002g0109 a0008c0009t0002g0028 others(1): Show a0001c0001t0003g0056 a0002c0002t0002g0109 a0008c0009t0002g0028 a0008c0009t0002g0029	4	338	0.0118	169	c.509 others(186): Show c.509+5764_509+5932dupATATGATAGCTACTAGTCACACATGGCT ACTTAAATGTAAATTAATTAAAATTATTTGCTTGAGGTGGTACACTGTGA TTCTCTGCTGGGAGGAGTGGCTAGAGATCTGTTCCTCTAGATGTCATCCA ACCAACAAACACTTTTTCAGTATCTTCTGCTGCACCGTTCA	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4732593	A A	ATATGATA others(162): Show ATATGATAGCTACTAGTCACACATGGCTACTTAAATGTAAATTAATTAAA ATTATTTGCTTGAGGTGGTACACTGTGATTCTCTGCTGGGAGGAGTGGCT AGAGATCTGTTCCTCTAGATGTCATCCAACCAACAAACACTTTTTCAGTA TCTTCTGCTGCACCGTTCAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00544.hp1 others(97): Show HG00140.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01433.hp2 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG02015.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02257.hp2 HG02293.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18959.hp1 NA18963.hp2 NA18973.hp1 NA18975.hp2 NA18981.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19057.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0010 a0011 a0021	a0001c0001 a0001c0014 a0002c0002 others(5): Show a0001c0001 a0001c0014 a0002c0002 a0005c0006 a0007c0008 a0010c0011 a0011c0012 a0021c0028	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0002c0002t0002 a0005c0006t0002 a0007c0008t0001 a0010c0011t0001 a0011c0012t0001 a0021c0028t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0021 others(88): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0002g0224 a0001c0014t0001g0217 a0002c0002t0002g0146 a0005c0006t0002g0210 a0005c0006t0002g0277 a0007c0008t0001g0188 a0007c0008t0001g0208 a0007c0008t0001g0209 a0010c0011t0001g0186 a0010c0011t0001g0207 a0011c0012t0001g0244 a0011c0012t0001g0245 a0021c0028t0001g0023	100	338	0.2959	169	c.509 others(186): Show c.509+6070_510-6096dupCACTTTTTCAGTATCTTCTGCTGCACCG TTCAGTATGATAGCTACTAGTCACACATGGCTACTTAAATGTAAATTAAT TAAAATTATTTGCTTGAGGTGGTACACTGTGATTCTCTGCTGGGAGGAGT GGCTAGAGATCTGTTCCTCTAGATGTCATCCAACCAACAAA	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLB1L3_chr11_134271379_134324564	134308212	C C	CACCACCA others(162): Show CACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCA TCACCATCACCACCACTACCACCACCACCACTACCACCACCACCAAATAC CACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCATCA CCATCATCACCATCACCACT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0089 a0002c0004t0001g0089	1	422	0.0024	169	c.961 others(186): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCACCAC CACCACCACCACCATCATCACCATCACCACCACTACCACCACCACCACTA CCACCACCACCAAATACCACCACCACCATGTCCACCACCACTACCACCAC CATCACCATCACCATCACCATCATCACCATCACCACTACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLOD4_chr17_754330_787280	768449	G G	GGAGAAAC others(162): Show GGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAGAAGTCTGGAGAGGAC GTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAGAAATCTGG AGAGGACGTGAGAGGGAGAAACAGCGCGCACTCAGATTTTTAGAGGAAGA AATCTGGAGAGGACGTGAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp1 HG02451.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	2	420	0.0048	169	c.831 others(186): Show c.831+1419_831+1420insTCTCACGTCCTCTCCAGATTTCTTCCTC TAAAAATCTGAGTGCGCGCTGTTTCTCCCTCTCACGTCCTCTCCAGATTT CTTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTC CAGACTTCTTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTC	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GNG4_chr1_235542685_235654784	235635572	C C	CCCATGAA others(162): Show CCCATGAATGGCTTGGTGCCCTCCCATAGTAACAAATGAGTTTTCCCTTT ATTAGTTCACAGGAGAGCTGGCTGTTTAAAATCAGCCCAGCACCTCTTCC CATCTCTCTTGCTCCCTCCCGCCATGTGACATGACTGCTCCCCCTTCACC TTCTGCCATGAGTAAAACCT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	330	0.0030	169	c.-12 others(190): Show c.-123+14089_-123+14090insAGGTTTTACTCATGGCAGAAGGTG AAGGGGGAGCAGTCATGTCACATGGCGGGAGGGAGCAAGAGAGATGGGAA GAGGTGCTGGGCTGATTTTAAACAGCCAGCTCTCCTGTGAACTAATAAAG GGAAAACTCATTTGTTACTATGGGAGGGCACCAAGCCATTCATGG	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	1/3			chr1	TogoVar
GNG4_chr1_235542685_235654784	235635572	C C	CCCATGAA others(162): Show CCCATGAATGGCTTGGTGCCCTCCCATAGTAACAAATGAGTTTTCCCTTT ATTAGTTCACAGGAGAGCTGGCTGTTTAAAATCAGCCCGGCACCTCTTCC CATCTCTCTTGCTCCCTCCCGCCATGTGACATGACTGCTCCCCCTTCACC TTCTGCCATGAGTAAAACCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(244): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(95): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0058 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0090 a0001c0001t0099 a0001c0001t0102 a0001c0001t0105 a0001c0001t0107 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0013 a0001c0002t0024 a0001c0002t0025 a0001c0002t0027 a0001c0002t0028 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0001c0002t0037 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0053 a0001c0002t0054 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0064 a0001c0002t0088 a0001c0002t0091 a0001c0002t0093 a0001c0002t0094 a0001c0002t0095 a0001c0002t0096 a0001c0002t0097 a0001c0002t0098 a0001c0002t0100 a0001c0002t0101 a0001c0002t0103 a0001c0002t0104 a0001c0002t0106	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0046 others(244): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0257 a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0313 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0151 a0001c0001t0003g0164 a0001c0001t0003g0217 a0001c0001t0003g0277 a0001c0001t0003g0288 a0001c0001t0003g0306 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0005g0162 a0001c0001t0005g0167 a0001c0001t0005g0218 a0001c0001t0005g0254 a0001c0001t0005g0291 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0006g0100 a0001c0001t0006g0105 a0001c0001t0006g0239 a0001c0001t0006g0290 a0001c0001t0006g0317 a0001c0001t0007g0043 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0283 a0001c0001t0008g0021 a0001c0001t0008g0030 a0001c0001t0008g0241 a0001c0001t0008g0265 a0001c0001t0008g0321 a0001c0001t0010g0048 a0001c0001t0010g0094 a0001c0001t0010g0139 a0001c0001t0010g0143 a0001c0001t0010g0173 a0001c0001t0011g0279 a0001c0001t0011g0281 a0001c0001t0011g0293 a0001c0001t0012g0250 a0001c0001t0012g0258 a0001c0001t0012g0259 a0001c0001t0012g0311 a0001c0001t0014g0014 a0001c0001t0014g0110 a0001c0001t0014g0253 a0001c0001t0014g0256 a0001c0001t0015g0280 a0001c0001t0017g0238 a0001c0001t0018g0089 a0001c0001t0018g0152 a0001c0001t0018g0272 a0001c0001t0019g0004 a0001c0001t0019g0008 a0001c0001t0019g0013 a0001c0001t0021g0075 a0001c0001t0021g0084 a0001c0001t0022g0263 a0001c0001t0022g0312 a0001c0001t0023g0074 a0001c0001t0023g0276 a0001c0001t0024g0005 a0001c0001t0025g0260 a0001c0001t0026g0247 a0001c0001t0026g0248 a0001c0001t0030g0171 a0001c0001t0032g0052 a0001c0001t0032g0262 a0001c0001t0035g0002 a0001c0001t0036g0109 a0001c0001t0038g0029 a0001c0001t0039g0028 a0001c0001t0040g0324 a0001c0001t0041g0025 a0001c0001t0047g0068 a0001c0001t0048g0223 a0001c0001t0049g0037 a0001c0001t0050g0062 a0001c0001t0051g0264 a0001c0001t0052g0053 a0001c0001t0055g0041 a0001c0001t0058g0107 a0001c0001t0065g0090 a0001c0001t0068g0098 a0001c0001t0069g0085 a0001c0001t0070g0221 a0001c0001t0071g0286 a0001c0001t0072g0246 a0001c0001t0073g0305 a0001c0001t0074g0083 a0001c0001t0075g0060 a0001c0001t0076g0076 a0001c0001t0077g0042 a0001c0001t0078g0061 a0001c0001t0079g0082 a0001c0001t0081g0240 a0001c0001t0082g0027 a0001c0001t0083g0318 a0001c0001t0084g0036 a0001c0001t0085g0251 a0001c0001t0086g0026 a0001c0001t0087g0140 a0001c0001t0090g0255 a0001c0001t0099g0229 a0001c0001t0102g0031 a0001c0001t0105g0330 a0001c0001t0107g0327 a0001c0002t0002g0033 a0001c0002t0002g0040 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0142 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0222 a0001c0002t0002g0226 a0001c0002t0002g0267 a0001c0002t0002g0269 a0001c0002t0002g0275 a0001c0002t0002g0282 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0308 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0020 a0001c0002t0003g0102 a0001c0002t0003g0236 a0001c0002t0004g0007 a0001c0002t0004g0009 a0001c0002t0004g0051 a0001c0002t0004g0135 a0001c0002t0004g0249 a0001c0002t0004g0252 a0001c0002t0004g0268 a0001c0002t0004g0315 a0001c0002t0004g0316 a0001c0002t0009g0044 a0001c0002t0009g0136 a0001c0002t0009g0153 a0001c0002t0009g0224 a0001c0002t0009g0225 a0001c0002t0009g0307 a0001c0002t0013g0091 a0001c0002t0013g0242 a0001c0002t0013g0244 a0001c0002t0013g0245 a0001c0002t0024g0243 a0001c0002t0025g0019 a0001c0002t0027g0010 a0001c0002t0027g0314 a0001c0002t0028g0289 a0001c0002t0031g0006 a0001c0002t0033g0326 a0001c0002t0033g0329 a0001c0002t0034g0001 a0001c0002t0037g0018 a0001c0002t0043g0310 a0001c0002t0044g0261 a0001c0002t0045g0024 a0001c0002t0046g0015 a0001c0002t0053g0003 a0001c0002t0054g0103 a0001c0002t0060g0093 a0001c0002t0061g0320 a0001c0002t0062g0274 a0001c0002t0064g0287 a0001c0002t0088g0309 a0001c0002t0091g0325 a0001c0002t0093g0141 a0001c0002t0094g0038 a0001c0002t0095g0055 a0001c0002t0096g0069 a0001c0002t0097g0270 a0001c0002t0098g0045 a0001c0002t0100g0160 a0001c0002t0101g0154 a0001c0002t0103g0322 a0001c0002t0104g0319 a0001c0002t0106g0328	247	330	0.7485	169	c.-12 others(190): Show c.-123+14089_-123+14090insAGGTTTTACTCATGGCAGAAGGTG AAGGGGGAGCAGTCATGTCACATGGCGGGAGGGAGCAAGAGAGATGGGAA GAGGTGCCGGGCTGATTTTAAACAGCCAGCTCTCCTGTGAACTAATAAAG GGAAAACTCATTTGTTACTATGGGAGGGCACCAAGCCATTCATGG	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	1/3			chr1	TogoVar
GNG4_chr1_235542685_235654784	235635572	C C	CCCATGAA others(162): Show CCCATGAATGGCTTGGTGCCCTCCCATAGTAACAAATGAGTTTTCCCTTT ATTAGTTCACAGGAGAGCTGGCTGTTTAAAATCAGCCTGGCACCTCTTCC CATCTCTCTTGCTCCCTCCCGCCATGTGACATGACTGCTCCCCCTTCACC TTCTGCCATGAGTAAAACCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0108 a0001c0002t0031g0108	1	330	0.0030	169	c.-12 others(190): Show c.-123+14089_-123+14090insAGGTTTTACTCATGGCAGAAGGTG AAGGGGGAGCAGTCATGTCACATGGCGGGAGGGAGCAAGAGAGATGGGAA GAGGTGCCAGGCTGATTTTAAACAGCCAGCTCTCCTGTGAACTAATAAAG GGAAAACTCATTTGTTACTATGGGAGGGCACCAAGCCATTCATGG	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	1/3			chr1	TogoVar
GON4L_chr1_155744659_155862214	155809992	T T	TTATAAAT others(162): Show TTATAAATTATATACATATATAATTATAAATTATATACATATATAATTAT AAATTATATACATATATAATTATAAATTATATACATATATAATTATAAAT TATATACATATATAATTATAAATTATATACATATATAATTATAAATTATA TACATATATAATTATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0209 a0001c0006t0001g0209	1	218	0.0046	169	c.145 others(188): Show c.1452+3641_1452+3642insTATATATAATTATATATGTATATAAT TTATAATTATATATGTATATAATTTATAATTATATATGTATATAATTTAT AATTATATATGTATATAATTTATAATTATATATGTATATAATTTATAATT ATATATGTATATAATTTATAATTATATATGTATATAATTTATA	GON4L	ENSG00000116580.20	transcript	ENST00000368331.6	protein_coding	10/31			chr1	TogoVar
GPC5_chr13_91393621_92872237	92347882	T T	TTATATAT others(162): Show TTATATATATTATATATATAATATATATATTATATATATAATATATATAT TATATATATTATATATATAATATATATATTATATATATATTATATATATT ATATATATAATATATATATTATATATATAATATATATATTATATATATAA TATATATATTATATATATAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	42	0.0238	169	c.156 others(192): Show c.1561+202922_1561+202923insTATATATATAATATATATATTA TATATATTATATATATAATATATATATTATATATATATTATATATATTAT ATATATAATATATATATTATATATATAATATATATATTATATATATAATA TATATATTATATATATAATATATATATTATATATATAATATATATAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR137B_chr1_236137539_236213907	236186228	A A	ATATAATA others(162): Show ATATAATAATATAAATAATATATAATATATATTATATATAATAATATAAA TAATATATAATATATATTATATATAATAATATAAATAATATATAATATAT ATTATATATAATAATATAAATAATATATAATATATATTATATATAATATA AATAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01169.hp2 HG01884.hp1 others(10): Show HG01106.hp2 HG01169.hp2 HG01884.hp1 HG02280.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0217 others(10): Show a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0018 a0001c0001t0002g0036 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0002t0002g0014 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022	13	386	0.0337	169	c.966 others(186): Show c.966+2322_966+2323insTATAATAATATAAATAATATATAATATA TATTATATATAATAATATAAATAATATATAATATATATTATATATAATAA TATAAATAATATATAATATATATTATATATAATAATATAAATAATATATA ATATATATTATATATAATATAAATAATATATAATATATATT	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6			chr1	TogoVar
GPT_chr8_144499140_144512172	144505532	T T	TTGCGTTC others(162): Show TTGCGTTCCCCGCCGCCCCGCCCCACTCCCCCCGCGCCCACGGTGCGTTC CCCGCCGCCCCGCCCCACTCCCCCCGCGCCCACGGTGCGTTCCCCCGCCG CCCCGCCCCACTCCCCCCGCGCCCACGGTGCGTTCCCCGCCGCCCCGCCC CACTCCCCCCGCGCCCACGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	386	0.0026	169	c.739 others(184): Show c.739+137_739+138insCGCCGCCCCGCCCCACTCCCCCCGCGCCCA CGGTGCGTTCCCCGCCGCCCCGCCCCACTCCCCCCGCGCCCACGGTGCGT TCCCCGCCGCCCCGCCCCACTCCCCCCGCGCCCACGGTGCGTTCCCCGCC GCCCCGCCCCACTCCCCCCGCGCCCACGGTGCGTTCCCC	GPT	ENSG00000167701.14	transcript	ENST00000394955.3	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(162): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0096 a0001c0002t0058g0096	1	282	0.0036	169	c.375 others(188): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(162): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAG AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0232 a0001c0001t0030g0232	1	282	0.0036	169	c.375 others(188): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(162): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0241 a0001c0001t0075g0241	1	282	0.0036	169	c.375 others(188): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(162): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAG AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	282	0.0036	169	c.375 others(188): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GRM4_chr6_34013643_34151087	34072235	C C	CACAGACA others(162): Show CACAGACAGCACCACACAGATACAAACCACACACACAACCATACATCAAC ACACAGCTACACAGCACACACAGACACACACATATCACCACACAGATACA CACCACACACACACTCCCACACATCACCACAAAAATACACACCACACACA GACACACACACCTATCACCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0180 a0001c0002t0004g0180	1	282	0.0036	169	c.737 others(188): Show c.737-10208_737-10207insTGGTGATAGGTGTGTGTGTCTGTGTG TGGTGTGTATTTTTGTGGTGATGTGTGGGAGTGTGTGTGTGGTGTGTATC TGTGTGGTGATATGTGTGTGTCTGTGTGTGCTGTGTAGCTGTGTGTTGAT GTATGGTTGTGTGTGTGGTTTGTATCTGTGTGGTGCTGTCTGT	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCTC others(162): Show CCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCT CTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0080 a0002c0005t0007g0080	1	290	0.0035	169	c.427 others(186): Show c.427-1069_427-1068insTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP4_chr10_983434_1024932	1010906	A A	ACACCACC others(162): Show ACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCA TTCTCCTGCATCCCTCCATCCTGACTCTGCCTCCTGCACCTCTTCCCTGT CCCGACACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCATCCCTC CATCCTGACTCTGCCTCCTG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	370	0.0027	169	c.134 others(186): Show c.1344+429_1344+430insCCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCTGGTGGAGATGC TGGGCCTCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCTCCTGCA CCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCC	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1010935	T T	TGGAGATG others(162): Show TGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTG CCTCCTGCACCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTGGGCCT CTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTT CCCCACCCCGAGACTCTGGC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0111 a0001c0002t0002g0111	1	370	0.0027	169	c.134 others(186): Show c.1344+461_1344+462insCTGCCTCCTGCACCTCTTCCCTGTCCCG ACACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATC CTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGCGGAGA TGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1010950	T T	TCTTCATT others(162): Show TCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGCACCTCTT CCCTGTCCCGACACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCA CCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACT CTGGTGGAGATGCTGGGCCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04115.hp1 HG03239.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0186 a0001c0001t0028g0258 a0001c0001t0001g0186 a0001c0001t0028g0258	2	370	0.0054	169	c.134 others(186): Show c.1344+461_1344+462insCTGCCTCCTGCACCTCTTCCCTGTCCCG ACACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATC CTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGA TGCTGGGCCCCTTCATTCTCCTGCACCCCTCCATCCTGACT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
HECW1_chr7_43107647_43571001	43316769	T T	TCTCTCCT others(162): Show TCTCTCCTCCCCTCCCCTCCCCTCCCCCCCTCTCCTCTCCTTTCCCCTTC CCTCCCCTCCCCTTCCCTCCCCTTCCTTCTCCTCCCCTCCCCTCCCCTTC CTTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTTCCCTCCTC TCCCCTCATCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0092 a0001c0004t0001g0092	1	182	0.0055	169	c.353 others(186): Show c.353-3847_353-3846insCCTCCCCCCCTCTCCTCTCCTTTCCCCT TCCCTCCCCTCCCCTTCCCTCCCCTTCCTTCTCCTCCCCTCCCCTCCCCT TCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTTCCCTCC TCTCCCCTCATCCCCTCCCCTCCTCTCCTCCCCTCCCCTCC	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HSF1_chr8_144286604_144319720	144313723	G G	GCACCGCC others(162): Show GCACCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCGCCTCCCCGCCTCC CCGCCCCGCCTCCCCGCACCGCCTCCCCGCACCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCGCCGCGCCGCCTC CCCGCCTCCCCGCGCCGCCT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0202 a0002c0002t0001g0202	1	330	0.0030	169	c.124 others(186): Show c.1248+108_1248+109insACCGCCTCCCCGCCTCCCCGCCCCGCCT CCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCACCGCCTCCCCGC ACCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCC TCCCCGCGCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HTR2C_chrX_114579086_114915061	114761990	C C	CATATATG others(162): Show CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATATGTGTATATATACGTGTATATATA CATATGTGTATATATACGTG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	176	0.0057	169	c.349 others(188): Show c.349+30383_349+30384insATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACATATGTGTATATATACGTG	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
HUWE1_chrX_53527096_53691719	53579038	G G	GAGGTCGG others(162): Show GAGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTC CGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGCGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0108 a0001c0007t0001g0108	1	214	0.0047	169	c.571 others(188): Show c.5716+1792_5716+1793insTCCCCCCCCGCCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCT	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	43/83			chrX	TogoVar
IFI44L_chr1_78615448_78651145	78643143	A A	AGAAAGCA others(162): Show AGAAAGCAAGAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18966.hp1 NA18975.hp2 NA18989.hp1 others(2): Show NA18966.hp1 NA18975.hp2 NA18989.hp1 NA19066.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0001 a0002c0002t0020g0099 a0002c0002t0020g0001 a0002c0002t0020g0099	5	430	0.0116	169	c.13 others(180): Show c.1351_*1352insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCGAAAGCAAGAGTTTCTT	IFI44L	ENSG00000137959.17	transcript	ENST00000370751.10	protein_coding	9/9	1352	INFO_REALIGN_3_PRIME	chr1	TogoVar
IFITM10_chr11_1727406_1755595	1754348	T T	TGAGGGGC others(162): Show TGAGGGGCATGGAGGGATGGAGGGGATGGAGGGGCATAGAGGGATGGAGG GGATGGAGGGGCATAGAGGGATGGAGGGGATGGAGGGGATGAAGGGATGG AGGGGCATGGAGGGATGGAGGGGATGGAGGGGCATAGAGGGATGGAGGGG ATGGAGGGGATGAAGGGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0181 a0001c0001t0010g0181	1	406	0.0025	169	c.-39 others(180): Show c.-3907_-3906insCATCCCTTCATCCCCTCCATCCCCTCCATCCCTC TATGCCCCTCCATCCCCTCCATCCCTCCATGCCCCTCCATCCCTTCATCC CCTCCATCCCCTCCATCCCTCTATGCCCCTCCATCCCCTCCATCCCTCTA TGCCCCTCCATCCCCTCCATCCCTCCATGCCCCTC	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3754		chr11	TogoVar
IGF1_chr12_102390874_102485563	102441953	T T	TTCTCCTT others(162): Show TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTC TTCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	360	0.0028	169	c.221 others(188): Show c.221-22264_221-22263insGAGAAGAAGAAGAAGAAGAAGAAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
INS_chr11_2154779_2166209	2161948	C C	CACCCCTG others(162): Show CACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTG TCCCCCGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCAGGACCCTGTCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	376	0.0027	169	c.-79 others(178): Show c.-799_-798insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCT GGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		740		chr11	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(162): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT ATATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0190 a0004c0004t0001g0190	1	344	0.0029	169	c.25- others(184): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATATATGAAATATATATATGATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
ISM1_chr20_13216274_13305651	13221212	C C	CCCTCCTC others(162): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCC CCCCTCCCCCCTCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	396	0.0025	169	c.-56 others(178): Show c.-565_-564insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding		61		chr20	TogoVar
ITIH4_chr3_52807962_52835672	52832637	G G	GAGGGAGA others(162): Show GAGGGAGAGGGGTTTTGAGGTCCCTGGTGCAGGCAGGGAGAGGGGTTTTG AGGTCCCTAGTGCAGTGCAGGGAGAGGGGTTTTGAGGTCCCTAGTGCAGT GCAGGGAGAGGGGTTTTGAGGTCCCTAGTGCAGTGCAGGGAGAGGGGTTT TGAGGTCCCTAGTGCAGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0074 a0002c0005t0001g0074	1	390	0.0026	169	c.-19 others(180): Show c.-1996_-1995insGCACTGCACTAGGGACCTCAAAACCCCTCTCCCT GCACTGCACTAGGGACCTCAAAACCCCTCTCCCTGCACTGCACTAGGGAC CTCAAAACCCCTCTCCCTGCACTGCACTAGGGACCTCAAAACCCCTCTCC CTGCCTGCACCAGGGACCTCAAAACCCCTCTCCCT	ITIH4	ENSG00000055955.17	transcript	ENST00000266041.9	protein_coding		1966		chr3	TogoVar
ITPR2_chr12_26330352_26838194	26784357	C C	CTCCTCTC others(162): Show CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTGCCTCTCCCTCT CGCTCTCGCTCTCGCTCTCGCTCTCGCTCTCGCTCTCGCTCTCGCTCTCG CTCTCGCTCTCCTTCCGCGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0008 a0001c0055t0008	a0001c0055t0008g0059 a0001c0055t0008g0059	1	142	0.0070	169	c.163 others(186): Show c.163+5799_163+5800insCCGCGGAAGGAGAGCGAGAGCGAGAGCG AGAGCGAGAGCGAGAGCGAGAGCGAGAGCGAGAGCGAGAGCGAGAGGGAG AGGCAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132097968	T T	TTTCCCTT others(162): Show TTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTT TCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTCCCCTTCCCCTTTC CTTCCCCTTTCCCTTTCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTT TCCCTTCCCCTTTCCCTTCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02074.hp1 HG02074.hp2 others(3): Show HG00423.hp2 HG02074.hp1 HG02074.hp2 HG03927.hp2 HG04184.hp1 NA18944.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0001c0001t0021 a0004c0007t0002 a0001c0001t0002 a0001c0001t0021 a0004c0007t0002	a0001c0001t0002g0027 a0001c0001t0002g0105 a0001c0001t0002g0146 others(3): Show a0001c0001t0002g0027 a0001c0001t0002g0105 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0021g0119 a0004c0007t0002g0121	6	158	0.0380	169	c.-13 others(188): Show c.-137-6704_-137-6703insTTCCCTTCCCCTTTCCCTTCCCCTTT CCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCC CTTCCCCTTCCCCTTCCCCTTTCCTTCCCCTTTCCCTTTCCTTCCCCTTT CCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23			chr10	TogoVar
KCNA7_chr19_49062397_49077699	49076716	T T	TTGTTGCC others(162): Show TTGTTGCCCAGGCTGGAGTGCAGCGGCATGATCTCAGCTCACTGTGCAAC CTTCGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGC TGGGATTAACAGGTGTGCACCACCACACCAGCTAATTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0004 a0003c0003t0004g0004	1	396	0.0025	169	c.-41 others(180): Show c.-4132_-4131insGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA ATTAGCTGGTGTGGTGGTGCACACCTGTTAATCCCAGCTACTCAGGAGGC TGAGACAGGAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCACAGTGAGC TGAGATCATGCCGCTGCACTCCAGCCTGGGCAACA	KCNA7	ENSG00000104848.2	transcript	ENST00000221444.2	protein_coding		4018		chr19	TogoVar
KCNA7_chr19_49062397_49077699	49076716	T T	TTGTTGCC others(162): Show TTGTTGCCCAGGCTGGAGTGCAGCGGCATGATCTCAGCTCACTGTGCAAC CTTCGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGC TGGGATTAACAGGTGTGCACCACCACACCAGCTAATTTTTTTTTTTTTTT TTTGAGACAGAGTCTCGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0010 a0002c0002t0008g0010	1	396	0.0025	169	c.-41 others(180): Show c.-4132_-4131insGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAA ATTAGCTGGTGTGGTGGTGCACACCTGTTAATCCCAGCTACTCAGGAGGC TGAGACAGGAGAATCGCTTGAACCCAGGAGGCGAAGGTTGCACAGTGAGC TGAGATCATGCCGCTGCACTCCAGCCTGGGCAACA	KCNA7	ENSG00000104848.2	transcript	ENST00000221444.2	protein_coding		4018		chr19	TogoVar
KCNA7_chr19_49062397_49077699	49076716	T T	TTGTTGCC others(162): Show TTGTTGCCCAGGCTGGAGTGCAGCGGCATGATCTCAGCTCACTGTGCAAC CTTCGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGC TGGGATTAACAGGTGTGCACCACCACACCAGCTAATTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0011 a0003c0003t0009g0011	1	396	0.0025	169	c.-41 others(180): Show c.-4132_-4131insGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA ATTAGCTGGTGTGGTGGTGCACACCTGTTAATCCCAGCTACTCAGGAGGC TGAGACAGGAGAATCGCTTGAACCCAGGAGGCGAAGGTTGCACAGTGAGC TGAGATCATGCCGCTGCACTCCAGCCTGGGCAACA	KCNA7	ENSG00000104848.2	transcript	ENST00000221444.2	protein_coding		4018		chr19	TogoVar
KDSR_chr18_63322726_63372206	63361017	A A	ATATATAT others(162): Show ATATATATATAATATATAATATATATAATAAAAATATATATTTTATATAT ATATAATATATATAATAAAAATATATATTTTATATATATATAATATATAT AATAAAAATATATATTTTATATATATATAATATATAATATATATAATAAA AATATATATTTTATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0068 a0001c0002t0004g0068	1	406	0.0025	169	c.199 others(186): Show c.199-1226_199-1225insATATATATAAAATATATATTTTTATTAT ATATATTATATATTATATATATATAAAATATATATTTTTATTATATATAT TATATATATATAAAATATATATTTTTATTATATATATTATATATATATAA AATATATATTTTTATTATATATATTATATATTATATATATA	KDSR	ENSG00000119537.18	transcript	ENST00000645214.2	protein_coding	2/9			chr18	TogoVar
KHSRP_chr19_6408102_6429811	6429100	T T	TATATATA others(162): Show TATATATATAATATATATATTATATATATGTTACATATATATATAATATA TATATTATATATATGTTACATATATATAATATATATATTATATATATGTT ATATATATATATAATATATATATTATATATATGTTACATATATATAATAT ATATATTATATATATGTTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0016 a0001c0001t0015g0016	1	386	0.0026	169	c.-44 others(180): Show c.-4400_-4399insGTAACATATATATAATATATATATTATATATATG TAACATATATATAATATATATATTATATATATATATAACATATATATAAT ATATATATTATATATATGTAACATATATATAATATATATATTATATATAT ATGTAACATATATATAATATATATATTATATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4290		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429111	T T	TATATATA others(162): Show TATATATATTATATATATGTTACATATATATATAATATATATATTATATA TATGTTACATATATATATAATATATATATTATATATATGTTACATATATA TATAATATATATATTATATATATGTTACATATATATAATATATATATTAT ATATATGTTACATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	386	0.0026	169	c.-44 others(180): Show c.-4411_-4410insTATATATATGTAACATATATATAATATATATATT ATATATATGTAACATATATATAATATATATATTATATATATATGTAACAT ATATATAATATATATATTATATATATATGTAACATATATATAATATATAT ATTATATATATATGTAACATATATATAATATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4301		chr19	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(162): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCT GCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTG AGTGAGAGGGTGGGGGCCAC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0204 a0001c0003t0003g0204	1	330	0.0030	169	c.430 others(184): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGTTCCT GATGGTGGCCCCTACCCTCTCACTCAGGGGCCCAGCAGGCAGCCCCCACC CCCTCACTCAGGGGTCCTGATGGCGGCCCCCACCCCTCACTCAGGGGCCC AGCAGGCAGCCCCCACCCCTTTACTCAGGGGTCCTGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(162): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGG AACGGCGCTGCGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0256 a0001c0001t0010g0256	1	375	0.0027	169	c.317 others(186): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(162): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGG GAACGGCGCTGCGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0222 a0003c0004t0001g0222	1	375	0.0027	169	c.317 others(186): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCG GGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(162): Show AGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGG GAACGGCGCTGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	375	0.0027	169	c.317 others(186): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG GCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCG GGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAAC GGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(162): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGG GGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	375	0.0027	169	c.317 others(186): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(162): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGG GGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	375	0.0027	169	c.317 others(186): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGG AACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACG GCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHDC4_chr16_87702812_87770986	87706222	C C	CGGGGGGG others(162): Show CGGGGGGGGGGTCAGCGTAATGCAAACACAAGCTGCAGCCCTCGGGGGGG GGTCAGCGTAATGCAAACACAAGCTGCAGCCCTCGGGGGGGGGGTCAGCG TAATGCAAACACAAGCTGCAGCCCTCGGGGGGGGGTCAGCGTAATGCAAA CACAAGCTGCAGCCCTCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 NA18998.hp1 HG04204.hp2 NA18998.hp1	a0002 a0023 a0002 a0023	a0002c0002 a0023c0025 a0002c0002 a0023c0025	a0002c0002t0001 a0023c0025t0002 a0002c0002t0001 a0023c0025t0002	a0002c0002t0001g0365 a0023c0025t0002g0322 a0002c0002t0001g0365 a0023c0025t0002g0322	2	380	0.0053	169	c.18 others(180): Show c.1854_*1855insCCCGAGGGCTGCAGCTTGTGTTTGCATTACGCTG ACCCCCCCCCGAGGGCTGCAGCTTGTGTTTGCATTACGCTGACCCCCCCC CCGAGGGCTGCAGCTTGTGTTTGCATTACGCTGACCCCCCCCCGAGGGCT GCAGCTTGTGTTTGCATTACGCTGACCCCCCCCCC	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		1589		chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87706222	C C	CGGGGGGG others(162): Show CGGGGGGGGGTCAGCGTAATGCAAACACAAGCTGCAGCCCTCGGGGGGGG GTCAGCGTAATGCAAACACAAGCTGCAGCCCTCGGGGGGGGGGTCAGCGT AATGCAAACACAAGCTGCAGCCCTCGGGGGGGGGGTCAGCGTAATGCAAA CACAAGCTGCAGCCCTCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0207 a0002c0002t0002g0207	1	380	0.0026	169	c.18 others(180): Show c.1854_*1855insCCCGAGGGCTGCAGCTTGTGTTTGCATTACGCTG ACCCCCCCCCCGAGGGCTGCAGCTTGTGTTTGCATTACGCTGACCCCCCC CCCGAGGGCTGCAGCTTGTGTTTGCATTACGCTGACCCCCCCCCGAGGGC TGCAGCTTGTGTTTGCATTACGCTGACCCCCCCCC	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		1589		chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87726258	G G	GCCCGTCT others(162): Show GCCCGTCTTCCCCACGCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCG CCCGTCTCCCCACCCCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGC CCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGCCC GTCTCCCCACCCCGCGCCTC	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0132 a0004c0004t0001g0132	1	380	0.0026	169	c.759 others(184): Show c.759+506_759+507insGAGGCGCGGGGTGGGGAGACGGGCGAGGCG CGGGGTGGGGAGACGGGCGAGGCGCGGCGTGGGGAGACGGGCGAGGCGCG GCGTGGGGAGACGGGCGAGGCGCGGGGGTGGGGAGACGGGCGAGGCGCGG GGTGGGGAGACGGGCGAGGCGCGGCGTGGGGAAGACGGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
KLHL1_chr13_69695597_70113452	69935218	T T	TTGGTCCA others(162): Show TTGGTCCATAGTTCACCTACTGGTGAACTTGGTCCATAGTTCACCTACTG GTGAACTTGGTCCATAGTTCACCTACTGGTGAACTTGGTCCATAGTTCAC CTACTGGTGAACTTGGTCCATAGTTCACCTACTGGTGAACTTGGTCCATA GTTCACCTACTGGTGAACTA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0172 a0001c0002t0012g0172	1	182	0.0055	169	c.101 others(188): Show c.1014+4821_1014+4822insTAGTTCACCAGTAGGTGAACTATGGA CCAAGTTCACCAGTAGGTGAACTATGGACCAAGTTCACCAGTAGGTGAAC TATGGACCAAGTTCACCAGTAGGTGAACTATGGACCAAGTTCACCAGTAG GTGAACTATGGACCAAGTTCACCAGTAGGTGAACTATGGACCA	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	4/10			chr13	TogoVar
LDLRAD4_chr18_13213760_13657751	13494662	A A	AGTGAGAC others(162): Show AGTGAGACTCCATCTCCACTAAAATATATATATATATAAAATATTATATT TATATATTATATATATAATATATATAATATTATATTTATATATTATATAT ATAATATATATATAATATTATATTATATATATAATATATATATAATATTA TATATATATAAAATTATATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0174 a0001c0001t0008g0174	1	178	0.0056	169	c.181 others(188): Show c.181+56278_181+56279insGTGAGACTCCATCTCCACTAAAATAT ATATATATATAAAATATTATATTTATATATTATATATATAATATATATAA TATTATATTTATATATTATATATATAATATATATATAATATTATATTATA TATATAATATATATATAATATTATATATATATAAAATTATATT	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6			chr18	TogoVar

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